UWorld Pediatric Incorrect

Heinz bodies

, which appear as small inclusions within an erythrocyte, are aggregates of denatured hemoglobin and are commonly seen in patients with hemolysis due to glucose-6-phosphate dehydrogenase deficiency and thalassemia. When phagocytes extract this rigid precipitate, they form characteristic bite cells (black arrow).

suspected foreign body ingestion, what to do

1 - lateral XR, otherwise not seen do CT 2 - high risk (batter, magnet, sharp, esoph/resp problems) = endoscopic removal low risk = no high risk features = serial xrays = either no transit so endosocopic removal OR object moving distally, no interv.

Developmental milestones during first year of life Age (months) Gross Motor Fine Motor Language Social/cognitive

2 Lifts head/chest in prone position Hands unfisted 50% of the time, Tracks past midline Alerts to voice/sound, Coos Social smile, Recognizes parents 4 Sits with trunk support, Begins rolling Hands mostly open, Reaches midline Laughs, Turns to voice Enjoys looking around 6 Sits momentarily propped on hands (unsupported by 7 months) Transfers objects hand to hand, Raking grasp Responds to name, Babbles Stranger anxiety 9 Pulls to stand, Cruises 3-finger pincer grasp, Holds bottle or cup Says "dada," "mama" Waves "bye", Plays "pat-a-cake" 12 Stands well, Walks first steps independently, Throws ball 2-finger pincer grasp Says first words other than "dada," "mama" Separation anxiety, Comes when called

Bedwetting is normal before age

5.

Immunologic blood transfusion reactions Transfusion reaction Onset* Cause Key features

Anaphylactic Within seconds to minutes Recipient anti-IgA antibodies directed against donor blood IgA Angioedema, hypotension, respiratory distress/wheezing, shock IgA-deficient recipient Acute hemolytic Within 1 hr ABO incompatibility (often clerical error) Fever, flank pain, hemoglobinuria Disseminated intravascular coagulation Positive Coombs test Febrile nonhemolytic (most common reaction) Within 1-6 hr Cytokine accumulation during blood storage Fever & chills Urticarial Within 2-3 hr Recipient IgE against blood product component Urticaria Transfusion-related acute lung injury Within 6 hr Donor anti-leukocyte antibodies Respiratory distress Noncardiogenic pulmonary edema with bilateral pulmonary infiltrates Delayed hemolytic Within days to weeks Anamnestic antibody response Often asymptomatic Laboratory evidence of hemolytic anemia Positive Coombs test, positive new antibody screen Graft versus host Within weeks Donor T lymphocytes Rash, fever, gastrointestinal symptoms, pancytopenia

Acute severe anemia in sickle cell disease Cause Reticulocytes Key features

Aplasticcrisis ↓ reticulocytes Transient arrest of erythropoiesis Secondary to infection (eg, parvovirus B19) Splenic sequestration crisis ↑ reticulocytes Splenic vasoocclusion → rapidly enlarging spleen Occurs in children prior to autosplenectomy Red blood cell sequestration in the spleen leads to severe, acute anemia and splenic engorgement, resulting in clinical findings of pallor, flow murmur, left upper quadrant pain, and splenomegaly. If untreated, splenic sequestration can progress to hypovolemic shock, as a significant portion of the total blood volume is trapped in the spleen. Classic laboratory findings include severe normocytic anemia, compensatory reticulocytosis, and thrombocytopenia (as platelets are also trapped in the spleen). Treatment includes correction of hypovolemia with isotonic fluids, small-volume transfusions, and eventual splenectomy.

combined B- and T-cell and and cerebellar ataxia and oculocutaneous telangiectasias are classic finding

Ataxia-telangiectasia b/c of defective DNA repair

Medications that often trigger hemolysis in G6PD deficiency

Avoid Diaminodiphenyl sulfone (dapsone) Isobutyl nitrite Nitrofurantoin********* Primaquine Rasburicase fava beans, infxn Use with caution Acetaminophen Acetylsalicylic acid (aspirin) Chloramphenicol Chloroquine Colchicine Diphenhydramine (Benadryl) Glyburide Isoniazid L-dopa Quinine Sulfamethoxazole Trimethoprim Vitamin K

Marfan v Homocystinuria

Both: pectus deformity, tall stature with long arms, arachnodactyly, joint hyperlaxity, skin hyperelasticity, scoliosis Marfan: AD, aortic root dilation (AR), upward lens dislocation, normal intellect Homocytinuria: AR, thrombosis, light skinned/eyes, downward lens dilocation, intellectual disability, megalobalastic anemia Dx: elevated homocysteine and methionine levels. Treatment: vitamin B6, folate, and vitamin B12 to lower homocysteine levels. In addition, antiplatelets or anticoagulation should be administered to prevent stroke, coronary heart disease, and venous thromboembolic disease. Phenylketonuria is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase. Clinical features of phenylketonuria include intellectual disability, fair complexion, eczema, and a musty body odor. These patients are not at risk for hypercoagulability.

metabolic acidosis causes

Calculation Anion gap = sodium - (chloride + bicarbonate) (Normal: 10-14) Common causes Mnemonic: MUDPILES Methanol Uremia Diabetic ketoacidosis Propylene glycol/paraldehyde Isoniazid/iron Lactic acidosis Ethylene glycol (antifreeze) Salicylates (aspirin)

Neonatal scalp swelling: Caput succedaneum Cephalohematoma Subgaleal hemorrhage Location (skin, periosteum, skull, space, brain) Clinical Features Prognosis

Caput succedaneum: Location: Subcutaneous, risk w/ forceps Clinical Features: Present at birth Soft, boggy Crosses sutures Overlying skin is normal Prognosis: Self-resolves in days Cephalohematoma: Location: Subperiosteal (between skull & periosteum) Clinical Features: Present hours after birth Firm, nonfluctuant Does not cross sutures Overlying skin is normal Prognosis: ↑ Hyperbilirubinemia risk, Resorbs within a month Subgaleal hemorrhage Location: Between periosteum & gala aponeurotica, shear emissary veins Clinical Features: Can expand over days Soft, fluctuant Diffuse, crosses sutures ± Overlying bruising Prognosis: Can cause life-threatening blood loss, serial Hb monitor

trisomy 13 (Patau syndrome)

Cutis aplasia (absence of epidermis over the skull) and microphthalmia holoprosencephaly and omphalocele

Breath-holding spell (BHS) vs seizure

Cyanotic BHS Age 6 months to 2 years ↑ Risk with iron deficiency anemia Crying/frustration Apnea & cyanosis → LOC Rapid return to baseline Pallid BHS Age 6 months to 2 years ↑ Risk with iron deficiency anemia Minor trauma Pain or fear Bradycardia, apnea & pallor → LOC ± Brief (<5 min) confusion or sleepiness Seizure Any age ↑ Risk with history of febrile seizure or developmental delay Triggers Often unprovoked Sleep deprivation Clinical features LOC → tonic-clonic movements Prolonged (>5 min) postictal confusion

Amblyopia

Definition Functional reduction in visual acuity due to visual disturbances in early childhood Unilateral (most common): ≥2-line difference in vision between eyes (eg, 20/30 & 20/50) Bilateral: vision worse than 20/40 at age ≥4 Etiology Strabismus Asymmetric refractive error Vision deprivation (eg, cataracts, ptosis) Management Corrective lenses Encourage use of amblyopic eye Patching eye with better vision Cycloplegic drops to blur normal eye Surgery (eg, cataract removal)

Campylobacter gastroenteritis is most commonly caused by undercooked poultry and presents with fever, abdominal pain, and mucus-filled (sometimes bloody) diarrhea. tx?

Disease is typically mild and self-limited, requiring symptomatic care only. Antibiotic therapy for Campylobacter gastroenteritis is indicated only in patients with severe disease (eg, duration >7 days, bloody stools, high fevers) or underlying risk factors for severe disease (eg, pregnant, immunocompromised), neither of which are seen in this patient.

Hypotonia is a common finding in neonates with? Poor muscle tone and a weak suck are key finding

Down syndrome

what are children who have drowned at risk for?

Drowning is defined as respiratory impairment after submersion in liquid. Aspirated liquid causes hypoxemia and can wash out pulmonary surfactant, leading to insidious onset of ARDS and pulm edema

Tinea capitis

Epidemiology Most common in African American children Transmission via direct contact or from fomite (eg, shared combs) Clinical features Scaly, erythematous patch with hair loss on scalp ± Black dots in affected area (broken hair) ± Tender lymphadenopathy Management Oral griseofulvin or terbinafine Trichotillomania is due to repeated plucking of hair, leading to an irregular pattern of broken hair strands of varying length. Seborrheic dermatitis causes a scaly, oily, erythematous rash affecting the skinfolds around the nose, eyebrows, and ears. Involvement of the scalp is commonly referred to as dandruff.

Medulloblastoma

Epidemiology Most common malignant pediatric brain tumor (also pilocytic astrocytoma) Posterior fossa tumor Originates in cerebellum Often compresses fourth ventricle Clinical features Cerebellar dysfunction: - Truncal/gait ataxia (cerebellar vermis)-> poor heel to toe, wide-based gait - Dysmetria, intention tremor (cerebellar hemispheres) Obstructive hydrocephalus (↑ ICP): - Headache, vomiting - Papilledema - Abducens nerve palsy Treatment Resection, craniospinal radiation, chemotherapy Differential: Acoustic neuroma, a typically benign tumor of the vestibulocochlear nerve, presents with hearing loss, tinnitus, and mild gait unsteadiness (due to vertigo). Large tumors can compress the cerebellum and cause ataxia. extremely rare in children Craniopharyngioma occurs in the pituitary stalk and can cause headache, vomiting, and visual changes. However, ocular findings include temporal field vision loss due to optic chiasm compression, not abducens nerve palsy. In addition, cerebellar dysfunction would not be seen. Glioblastoma is an aggressive, supratentorial malignant tumor that usually presents with headache, seizures, and focal neurologic deficits (eg, motor weakness). This patient's cerebellar dysfunction makes this diagnosis unlikely. Meningioma is a benign, extraaxial tumor that may present with seizure and focal defects based on tumor location, such as visual field defects if the optic pathway is involved. Meningioma is extremely rare in children, and cerebellar involvement is atypical. Pinealoma may present with signs of increased ICP due to obstructive hydrocephalus. However, patients typically have Parinaud syndrome, which is characterized by limitation of upward gaze, light-near dissociation, and eyelid retraction (none of which are seen in this patient).

Peutz-Jeghers syndrome

Etiology Autosomal dominant disorder Tumor suppressor gene mutation causes unregulated tissue growth Clinical features Pigmented macules (eg, lips, buccal mucosa, palms/soles) ≥2 gastrointestinal hamartomatous polyps = Abdominal pain due to obstruction or intussusception, Anemia due to acute/chronic bleeding, Rectal prolapse ↑ Cancer risk (eg, gastrointestinal, breast, genital tract) Positive family history Diagnosis Genetic testing Management Annual anemia screening Cancer screening (eg, upper/lower endoscopy) lead poisoning can cause microcytic anemia in young children (eg, pica) or in adults with environmental exposures (eg, lead paint), this adolescent patient has no risk factors. In addition, rare oropharyngeal findings in chronic lead toxicity include blue "lead lines" along the gingival margin (where the gums meet the teeth), not brown macules on the lips and buccal mucosa.

Galactosemia

Etiology GALT deficiency = a deficiency of the enzyme galactose 1-phosphate uridylyltransferase (GALT). GALT is responsible for the metabolization of galactose, found in breast milk and cow's milk-based formula, into glucose -> hypoglycemia Autosomal recessive Galactose accumulation after lactose or galactose ingestion Clinical findings Jaundice & hepatomegaly Vomiting & poor feeding/failure to thrive = cant tolerate cow milk - small for size Cataracts - accumulated galactitol (a galactose by-product) deposits in the lens. Increased risk for Escherichia coli sepsis Laboratory findings ↑ Bilirubin, AST, ALT ↓ Glucose Metabolic acidosis + Urine reducing substance Diagnosis May be identified on newborn screening Absent red blood cell GALT activity Treatment Galactose-free diet (eg, soy-based formula) Lack of maternal rubella vaccination puts the fetus at risk for congenital rubella syndrome if the infection is contracted during the first trimester. Newborns may have jaundice, hepatomegaly, and cataracts but typically also have microcephaly and a heart defect (eg, patent ductus arteriosus). This patient has a normal head circumference and cardiac examination

Galactosemia

Etiology GALT deficiency = galactose-1-phosphate uridylyltransferase (GALT) deficiency -> galactose (found in breast milk and standard cow's milk-based formula) cannot be reduced to glucose and accumulate in tissue Autosomal recessive Galactose accumulation after lactose or galactose ingestion Clinical findings Jaundice & hepatomegaly Vomiting & poor feeding/failure to thrive Cataracts Increased risk for Escherichia coli sepsis Laboratory findings ↑ Bilirubin (direct - liver dz, indirect - hemolysis BOTH), AST, ALT ↓ Glucose Metabolic acidosis + Urine reducing substance Diagnosis May be identified on newborn screening Absent red blood cell GALT activity Treatment Galactose-free diet (eg, soy-based formula) differential: Glycogen storage diseases can present with hepatomegaly and signs of hypoglycemia (eg, seizures). However, hypoglycemic episodes do not typically occur until age 3-6 months because they are caused by periods of fasting, which begin when the infant sleeps longer through the night.

Severe combined immunodeficiency

Etiology Gene defect leading to failure of T-cell development B-cell dysfunction due to absent T cells Inheritance X-linked recessive Autosomal recessive Clinical features Recurrent, severe viral, fungal, or opportunistic (ie, Pneumocystis) infections Failure to thrive Chronic diarrhea Treatment Stem cell transplant*** Intravenous immunoglobulin and broad-spectrum antibiotic therapy are short-term management options for SCID while awaiting transplantation. Intravenous immunoglobulin can be used for long-term therapy in certain humoral immunodeficiency syndromes (eg, X-linked agammaglobulinemia, common variable immunodeficiency).

Neonatal sepsis

Etiology Group B Streptococcus Escherichia coli Listeria monocytogenes (age <7 days) Clinical features Temperature instability (fever or hypothermia) CNS signs (eg, lethargy, irritability, apnea) Poor feeding Respiratory distress (eg, tachypnea, grunting) Jaundice (sepsis cholestasis) Abnormal leukocyte count (high or low); bandemia Diagnosis Blood, urine & cerebrospinal fluid cultures Treatment Parenteral antibiotics (ampicillin & gentamicin) for GBS, Listeria, E coli HSV = acyclovir Ceftriaxone and vancomycin are used as empiric therapy for suspected sepsis in children age >1 month. Ceftriaxone, which does not cover L monocytogenes, is typically avoided in neonates due to its associated risk of hyperbilirubinemia. In addition, vancomycin is usually considered only in neonates with risk factors (eg, prolonged hospitalization) for methicillin-resistant Staphylococcus aureus.

Von Hippel-Lindau disease

Etiology Mutation in the VHL tumor suppressor gene on chromosome 3 Autosomal dominant inheritance Manifestations Cerebellar & retinal hemangioblastomas Pheochromocytoma Renal cell carcinoma (clear cell subtype) Management Surveillance for associated malignancies Eye/retinal examination Plasma or urine metanephrines MRI of the brain & spine MRI of the abdomen Tumor resection

Immune thrombocytopenia

Etiology Platelet autoantibodies Preceding viral infection Clinical findings Petechiae, ecchymosis Mucosal bleeding (eg, epistaxis, hematuria) Laboratory findings Isolated thrombocytopenia <100,000/mm3 Few platelets (size normal to large) on peripheral smear Treatment Children: Observe if cutaneous symptoms only Glucocorticoids, IVIG, or anti-D if bleeding Adults: Observation if cutaneous symptoms AND platelets ≥30,000/mm3 Glucocorticoids, IVIG, or anti-D if bleeding or platelets <30,000/mm3 Patients with chronic immune thrombocytopenia have platelets <100,000/mm3 for >1 year. rituximab, thrombopoietin receptor agonists if refractory OR Splenectomy is an option for those with persistent bleeding and thrombocytopenia despite repeated pharmacologic interventions (eg, glucocorticoids, anti-D, intravenous immunoglobulin).

Wiskott-Aldrich syndrome

Etiology X-linked recessive defect in WAS protein gene Impaired cytoskeleton changes in leukocytes, platelets Clinical features Eczema Microthrombocytopenia (small platelets, low platelet count) Recurrent infections (WBC cytoskeletal dysfunction w/ impair migration) Treatment Stem cell transplant

Fragile X syndrome

FXS is an x-linked disorder characterized by intellectual disability, large ears, a long and narrow face, and macroorchidism (after age 8) - testicular enlargement Fragile X syndrome Pathogenesis Trinucleotide (CGG) repeat expansion of FMR1 Gene methylation silences FMR protein X-linked dominant inheritance Neuropsychiatric features Developmental delay Intellectual disability Attention deficit hyperactivity disorder Autism spectrum disorder Self-injurious behavior (eg, hand biting) Anxiety Examination findings Long face with prominent forehead & chin Large, protruding ears Macroorchidism (age >8) Macrocephaly Joint hypermobility (eg, fingers, wrists) hypotonia Diagnosis FMR1 DNA analysis (PCR or Southern blot) Prognosis = normal life expectancy

Splenic sequestration crisis is a life-threatening complication of sickle cell disease in which red blood cells become entrapped within the spleen. Patients have anemia, splenomegaly, and hypovolemic shock. Treatment?

Focuses on the restoration of circulatory volume with intravenous fluids and packed red blood cell transfusion. The recurrence rate of splenic sequestration is high and may warrant splenectomy as definitive management. However, splenectomy is not typically performed in the acute setting and is often unnecessary due to the natural history of splenic autoinfarction in patients with sickle cell disease.

infant constipation: Functional v pathologic

Functional infant constipation Risk factors Introduction of solid foods ↓ Water intake ↓ Fiber diet Clinical features Infrequent defecation Hard, painful stools Large-caliber or pellet-like stools ± Anal fissure Management Add undigestable, osmotically active carbohydrate (eg, prune or apple juice/puree) Pathologic causes Risk factors Down syndrome Abnormal physical findings (eg, displaced anus, tuft at gluteal cleft) Clinical features Delayed passage of meconium Fever or vomiting Ribbon stools Poor growth Severe abdominal distension Management Workup for serious organic cause Hirschsprung disease (barium enema) Cystic fibrosis (sweat chloride test) Spinal dysraphism (MRI)

kids with no hx and random movements, first thing to check?

GAS = antistreptolysin O titers and anti-DNAse B titers differential: muscle cramps and tetany (eg, paresthesia, stiffness, spasms) with hypocalcemia and tachycardia and tremor with hyperthyroidism; Iron deficiency with low serum ferritin is associated with restless legs syndrome. In contrast to this case, fidgety movements occur primarily at night.

Glucocerebrosidase enzyme deficiency results in ____. Glucocerebroside accumulates in macrophages of the liver, spleen, and bone marrow, causing bone pain and cytopenias.

Gaucher disease

presents at age 3-4 months with hypoglycemia (often with seizures), lactic acidosis, hyperuricemia, and hyperlipidemia. Patients typically have a doll-like face, thin extremities, short stature, and a protuberant abdomen (due to hepatomegaly).

Glucose-6-phosphatase deficiency (type I glycogen storage disease, von Gierke disease) -Not hypoglycemia in patients because that presents in first 24 hours in life, not later and has no specific facial features like G6PD

Intracranial hypertension presents with headache, vision changes, papilledema, and/or abducens nerve (CN VI) palsy. Meds that can cause it?

Growth hormone, tetracyclines, and excessive vitamin A and its derivatives (eg, isotretinoin) can cause increased intracranial pressure. Withdrawal of these medications leads to symptom resolution. Diagnostic workup includes neuroimaging (preferably MRI with MR venography) to rule out a mass or obstruction as the cause of increased ICP. On lumbar puncture, an elevated opening pressure (>250 mm H2O) with an otherwise normal cerebrospinal fluid analysis is diagnostic.

Most patients have a preceding respiratory or gastrointestinal (Campylobacter) infection that triggers an initial antibody response, which then acts on similar antigens on myelin and axons. sx?

Guillain-Barré syndrome most commonly presents with ascending weakness and areflexia, and can progress to involve respiratory and bulbar muscles. Serial pulmonary function testing (eg, spirometry) of forced vital capacity and negative inspiratory force is indicated to monitor for impending respiratory failure.

asymmetrical left ventricular hypertrophy leading to left ventricular outflow tract obstruction (LVOT). This condition is more common in YOUNG African Americans and has an autosomal dominant inheritance. Patients may be asymptomatic or present with dyspnea, chest pain, palpitations, or presyncope/syncope. Physical examination can show a carotid pulse with dual upstroke due to midsystolic obstruction during cardiac contraction = significant LVOT obstruction causes a systolic ejection murmur along the left sternal border with a strong apical impulse.

HCM valsalva strain, nitroglycerin, abrupt standing = decrease preload = decrease LV blood volume - increase murmur sustained hand grip = increase afterload squat = increase afterload and preload passive leg raise = increase preload increas LV BV = decrease murmur

classic tetrad of findings seen with ______ includes lower extremity palpable purpura, arthralgia/arthritis, abdominal pain, and/or renal disease. The vasculitis can also involve the scrotum, causing scrotal pain and swelling. Normal platelet count & coagulation studies Normal to ↑ creatinine Hematuria ± RBC casts &/or proteinuria

Henoch-Schönlein purpura (IgA vasculitis)

Herpangina v. herpetic gingivostomatitis

Herpangina is caused by Coxsackie virus infection. It typically presents with fever and oropharyngeal vesicles and ulcers on the posterior soft palate, palatine pillars, tonsils, and uvula. Tx: supportive In contrast, herpetic gingivostomatitis is a herpes simplex virus infection characterized by clusters of vesicles that generally localize to the anterior oral cavity (buccal mucosa, tongue, gingiva, hard palate) and lips. Tx: acyclovir

Pediatric traumatic brain injury (PECARN rule)

High-risk featuresage <2 Altered mental status (fussy behavior) Loss of consciousness Severe mechanism of injury (fall >0.9 m [3 ft], high impact, MVC) Nonfrontal scalp hematoma Palpable skull fracture High-risk featuresage ≥2-18 Altered mental status (eg, somnolence, agitation) Loss of consciousness Severe mechanism of injury (fall >1.5 m [5 ft], high impact, MVC) Vomiting, severe headache Basilar skull fracture signs (eg, CSF rhinorrhea, periorbital ecchymosis, Battle sign = mastoid ecchmyosis, discharge CSF in ear)) Management Head CT scan without contrast

Delayed passage of meconium Hirschsprung disease Meconium ileus

Hirschprung Disease Pathophysiology Failure of neural crest cell migration Level of obstruction Rectosigmoid Rectal examination Increased tone Positive squirt sign* Meconium consistency Normal Imaging Dilated proximal colon ± small bowel Narrow rectosigmoid Associated disorder Down syndrome Meconium Ileus Pathophysiology Obstruction by inspissated stool Level of obstruction Ileum Rectal examination Normal tone Negative squirt sign* Meconium consistency Inspissated Imaging Dilated small bowel Microcolon Associated disorder Cystic fibrosis

Cyclic vomiting syndrome

History Personal or family history of migraines Episodes often have identifiable trigger (eg, infection, stress) Symptoms Stereotypical vomiting episodes Acute onset of nausea, abdominal pain, headache, vomiting Self-limited, lasting 1-2 days Between episodes: Usually asymptomatic, Often regular intervals (eg, 2-4 weeks)

Infant botulism is caused by the ingestion of Clostridium botulinum spores = descending flaccid paralysis -> infant presents with bulbar palsies, constipation, and hypotonia, even if the infant has not been fed honey.

Human-derived botulism immune globulin is the treatment of choice , even with no confirmation Foodborne botulism results from ingestion of canned food contaminated by preformed botulinum toxin. The presentation differs from infant botulism in that the descending flaccid paralysis is preceded by a prodrome of nausea, vomiting, abdominal pain, and diarrhea. Tx: botulism antitoxin

Toxic-metabolic encephalopathy* & cerebral edema Diagnosis Precipitating factors

Hypoxic-ischemicencephalopathy Near-drowning event Choking episode Diabetic ketoacidosis Poorly controlled diabetes mellitus Hyponatremia SIADH Rapid correction of hypernatremia Liver failure Viral or autoimmune hepatitis Hepatotoxic drugs (eg, acetaminophen) Reye syndrome Aspirin administration for viral illness in children Urea is a neurotoxin that, in excess (eg, renal failure), can cause altered mental status (ie, uremic encephalopathy) but not cerebral edema. Signs of renal impairment (eg, hypertension, peripheral edema), not hepatomegaly, would be expected.

Group B Streptococcus (GBS) is the most common cause of neonatal sepsis. Prevention of early onset GBS infection includes maternal screening before delivery and prophylaxis with intrapartum antibiotics, but these measures do not decrease the risk of late-onset (>7 days) GBS sepsis. why?

IAP does not eliminate colonization. Therefore, it has not changed the incidence of horizontally transmitted (eg, person to person on unwashed hands), late-onset GBS sepsis, as seen in this patient, who was likely exposed to GBS at home from his colonized mother.

Pancytopenia with a low reticulocyte response indicates a bone marrow condition, and peripheral blood smear and bone marrow evaluation are diagnostic. Aplastic anemia v. leukemia on dx test? In this patient, the major clue is the minimal reticulocyte response despite significant anemia. Although this can be seen in advanced renal disease due to impaired production of erythropoietin, the normal creatinine makes significant renal impairment unlikely. Therefore, reticulocytopenia most likely reflects bone marrow failure due to hematologic stem cell damage (eg, aplastic anemia) or infiltrative disease (eg, leukemia).

In aplastic anemia, peripheral smear lacks normal-appearing cells and bone marrow is profoundly hypocellular with abundant fat cells In contrast, blast cells on peripheral smear and bone marrow biopsy are indicative of leukemia.

Moderate or large ventricular septal defect Timeline Pathophysiologic changes

In utero RV & LV pressures equal No significant hemodynamic consequences Postnatal transition ↓ PVR, ↑ SVR Left-to-right shunting through VSD Infancy RV volume overload/dilation = hepatomegaly Pulmonary overcirculation - increased work of breathing (eg, tachypnea, retractions), tachycardia, diaphoresis, and pallor, particularly during times of exertion (eg, feeding in infant) LA & LV volume overload/dilation - hear holosystolic murmur at lower left sternal border with palpable thrill (turbulent flow) + LH enlarged on XR Late childhood Pulmonary arterial vascular thickening (↑ PVR) Right-to-left shunting through VSD (ie, Eisenmenger syndrome)

HPV vaccination

Individuals age ≥15 require 3 doses of the human papillomavirus (HPV) vaccine to achieve immunity. In contrast, individuals age <15, such as this patient, require only 2 doses administered 6 months apart to achieve equivalent immunity.

patient with factor 8 deficiency with bleeding refractory to replacement therapy or with increased bleeding frequency, dx?

Inhibitor development occurs in 25% of patients with severe factor VIII deficiency. I

Common sequela of Streptococcus pneumoniae meningitis?

Intellectual/behavioral disabilities Hearing loss Cerebral palsy Epilepsy Hearing loss due to inflammatory damage to the cochlea and/or labyrinth Audiologic testing should be performed as soon as possible to identify hearing loss and improve outcomes if hearing rehabilitation is need

what to do if cannot put peripheral catheter in?

Intraosseous lines can be placed rapidly when emergency access is necessary and peripheral access cannot be obtained. Intraosseous access can be performed with less required skill and practice than central venous a

Affected patients 6 mo-3 yrs have episodes of inconsolable crying, with legs drawn to the abdomen due to pain, followed by asymptomatic periods. dx?

Intussusception is an abdominal emergency. dx test: Abdominal ultrasound -> target sign, which represents a bowel segment telescoping into another tx: air/saline enema

Diaper dermatitis Diagnosis

Irritant contact dermatitis Pathogenesis Skin breakdown from exposure to stool/urine Most common diaper rash Examination Erythematous papules, plaques Spares skinfolds Treatment Topical barrier (eg, petrolatum, zinc oxide) Candida dermatitis Pathogenesis Yeast superinfection of irritant contact dermatitis Second most common diaper rash Examination Beefy-red confluent plaques Involves skinfolds Satellite lesions Treatment Topical antifungal (eg, nystatin) NOT ORAL

Acute causes of hemiplegia in children Cause Historical clues Key findings

Ischemic stroke: Historical clues: Prothrombotic disorder (eg, ATIII deficiency) Cardiac disease (eg, PFO) Vasculopathy (eg, SCD) Key findings: Focal infarct on brain imaging Intracranial hemorrhage: Historical clues: Recent trauma Bleeding disorder (eg, hemophilia) Signs of ↑ ICP (eg, vomiting, bradycardia) Key findings: Hemorrhage on brain imaging Seizure (Todd paralysis): Historical clues: Symptoms preceded by limb jerking or loss of consciousness Presence of postictal confusion Key findings: Symptoms self-resolve within 36 hours Hemiplegic migraine Historical clues: Onset in adolescence Positive family history History of headache with aura Key findings: Symptoms self-resolve

Transient synovitis Juvenile idiopathic arthritis

Juvenile idiopathic arthritis presents with chronic joint pain and inflammation and may be associated with rash and fever. The hips are rarely involved, and elevated inflammatory markers are expected. Transient synovitis is a self-limiting, inflammatory hip condition most common in children age 3-8. Presentation may include limp (with ability to bear weight), hip pain, or pain referred to the knee. Most patients are afebrile with normal laboratory studies (eg, white blood cell count, C-reactive protein) and small, bilateral hip effusion. Can reoccur.

PEP for pertussis?

Macrolides (eg, azithromycin) are the first-line medications for pertussis treatment and postexposure prophylaxis. All close and high-risk contacts should be given prophylaxis regardless of immunization status.

tx of shoulder dystocia clavicular fracture?

Management includes reassurance and gentle handling, as most neonatal clavicular fractures heal rapidly without complications. To decrease pain, arm motion may be restricted by pinning the infant's sleeve to the shirt.

Lens dislocation (Painless vision loss and Tremulous iris with eye movement) typically occurs after blunt trauma to the eye. However, ectopia lentis following minimal or no trauma should prompt evaluation for

Marfan syndrome, including echocardiography to detect associated aortic root disease.

tx croup?

Mild croup is characterized by a barky cough with or without the stridor that is present only with agitation (eg, crying) and not at rest. It is managed with a single dose of corticosteroids (eg, dexamethasone) to decrease airway edema. More severe obstruction that causes stridor at rest is treated with corticosteroids and nebulized epinephrine.

Among patients with meningitis, a viral etiology is suggested when cerebrospinal fluid analysis reveals a mildly elevated white blood cell count and protein level and normal glucose concentration. Mumps v. CMV?

Mumps virus is capable of causing viral meningitis in unvaccinated individual. Cytomegalovirus causes a mononucleosis-like illness during primary infection. It does not cause viral meningitis in healthy patients.

Which 3 bacteria (in order) likely cause rhinosinusitis?

Nontypeable Haemophilus influenzae, Streptococcus pneumoniae, and Moraxella catarrhalis are the most common bacterial causes of acute bacterial rhinosinusitis, which commonly presents with ≥10 days of persistent nasal discharge and cough. Treatment is amoxicillin ± clavulanate if symptoms are severe (eg, high fever) or worsening.

Type 1 diabetes mellitus

Onset Bimodal distribution: Age 4-6, Age 10-14 Pathophysiology Destruction of pancreatic beta islet cells Clinical manifestations Polydipsia Polyuria, nocturia, enuresis Weight loss Fatigue Blurred vision Diagnosis is confirmed by elevated serum glucose or the presence of glucose in the urine Treatment Insulin replacement Psychologic stress (eg, new home, birth of a sibling, parental divorce) can cause behavioral regression, including secondary enuresis. In addition, functional constipation causing stool retention in the distal bowel can lead to decreased bladder capacity and enuresis. Both causes should be investigated in a child with enuresis. However, fatigue, polydypsia, signs of dehydration, and weight loss would not be expected, so type 1 DM is more likely in this case.

Pathogenesis >90% autosomal dominant Type I collagen gene (COL1A1) defect Clinical features Mild to moderate: Frequent fractures, Blue sclera, Conductive hearing loss, Short to normal stature, Dentinogenesis imperfecta, Joint hypermobility Lethal (type II): In utero and/or neonatal fractures, Pulmonary failure Differentiate with Ehlers Danlos and Paget disease and Rickets

Osteogenesis imperfecta Ehlers Danlos = connective tissue disorder caused by defective type V collagen. This defect causes patients to have joint hypermobility (eg, subluxation, dislocation) but not recurrent fractures. Paget disease of bone occurs due to accelerated bone remodeling. Symptomatic patients can have bone pain and recurrent fractures due to excessive remodeling; however, this disorder is more common in adults and has no associated dental abnormalities. Calcipenic rickets (ie, deficient bone mineralization) can present with fractures and dental enamel hypoplasia in severe cases. However, patients have widened epiphyseal plates on x-ray due to impaired mineralization. In addition, there is no associated joint hypermobility.

Most patients with sickle cell trait lead normal, healthy lives. most common complication?

Painless hematuria = sickling in the renal medulla. Hyposthenuria (impairment in concentrating ability) is also common and can present as nocturia and polyuria.

Persistent pulmonary hypertension of the newborn

Pathogenesis Abnormal persistence of elevated fetal pulmonary vascular resistance Right-to-left shunting across ductus arteriosus Risk factors Lung hypoplasia (eg, congenital diaphragmatic hernia) Meconium aspiration syndrome Infection (eg, neonatal pneumonia) Examination ↓ Postductal relative to preductal oxygen saturation Respiratory distress & cyanosis Prominent S2 Treatment Oxygenation & ventilation Inhaled nitric oxide (pulmonary vasodilator) = decrease PVR = decrease flow through PDA

Biliary atresia

Pathogenesis Extrahepatic bile duct fibrosis Clinical findings Asymptomatic at birth Infants age 2-8 weeks:Jaundice, acholic stools, dark urine Hepatomegaly Diagnostic evaluation Direct hyperbilirubinemia Ultrasound:Absent/abnormal gallbladder &/or CBD Liver biopsy:Intrahepatic bile duct proliferation Portal tract inflammation & edema,Fibrosis Intraoperative cholangiography (gold standard):Biliary obstruction Treatment Surgical hepatoportoenterostomy (Kasai procedure) Liver transplant

Myositis ossificans

Pathogenesis Formation of lamellar bone in extraskeletal tissues Causes &risk factors Traumatic: muscle injury, fracture, orthopedic surgery (eg, arthroplasty) Neurogenic: stroke, traumatic brain injury, spinal cord injury Clinical presentation Intramuscular mass with pain, swelling/induration Days to weeks following injury Quadriceps & brachialis most common Diagnosis Laboratory: elevated alkaline phosphatase, ESR, C-reactive protein X-ray: periosteal bone reaction, calcification with radiolucent center Management ROM exercise & NSAIDs (eg, indomethacin) Surgical excision

Necrotizing enterocolitis

Pathogenesis Gut mucosal wall invasion by gas-producing bacteria Intestinal inflammation, necrosis Risk factors Prematurity Very low birth weight (<1.5 kg [3.3 lb]) Enteral feeding Clinical findings Nonspecific: apnea, lethargy, vital sign instability Gastrointestinal: Abdominal distension, Feeding intolerance, bilious emesis, Bloody stools X-ray findings Pneumatosis intestinalis (air in bowel wall) Pneumoperitoneum (free air under diaphragm) Complications Sepsis, disseminated intravascular coagulation Late: strictures, short-bowel syndrome

Legg-Calvé-Perthes disease

Pathogenesis Idiopathic avascular necrosis of the femur Clinical features Boys age 3-12 Insidious hip pain, limp Restricted hip abduction, internal rotation Positive Trendelenburg sign Atrophy of thigh muscle Diagnosis X-ray Early stages: May be normal, lucency/densities Later stages: Femoral head flattening, fragmentation, sclerosis MRI: Avascular/necrotic femoral head Treatment Non-weight bearing Splinting, possible surgical repair Differential: Slipped capital femoral epiphysis also presents with limp and insidious hip pain. Patients are typically adolescent and obese, neither of which is true in this patient. In addition, x-ray shows posterior displacement of the femoral head, unlike the normal x-rays in this patient. Transient synovitis also presents with hip or knee pain and limp; however, symptoms typically develop after a viral infection and resolve within 4 weeks. This patient has had symptoms for 2 months and more likely has LC

Posttransplantation lymphoproliferative disorder

Pathogenesis Immunosuppression following solid-organ or stem cell transplantation → suppressed cytotoxic T-cell immunosurveillance → unchecked viral replication → immortalized lymphocytes or plasma cells Epstein-Barr virus causes >95% of cases, but other human herpesviruses (eg, HHV8) can also trigger the disease Manifestations Fever Lymphadenopathy & hepatosplenomegaly Leukopenia Masses in nonlymphatic tissue Diagnosis High viral titers Biopsy evidence of lymphoid or plasma cell proliferation Treatment Reduce immunosuppression B-cell immunotherapy (eg, rituximab) Epstein-Barr virus titer monitoring Differential: Pneumocystis pneumonia is common in patients with deficits in cell-mediated immunity due to immunosuppressive medications. Patients typically have progressive respiratory failure with bilateral reticulonodular pulmonary infiltrates and profound hypoxia. Although lactate dehydrogenase levels are often elevated, lymphadenopathy is not common. Viral myocarditis often causes chest pain, arrhythmia, or heart failure; a second episode of viral myocarditis is uncommon, may cause heart abnormalities (eg, wall dysfunction, pericardial effusion) that could be identified on echocardiogram, and is unlikely to explain cervical and mediastinal lymphadenopathy.

Henoch-Schönlein purpura (IgA vasculitis)

Pathogenesis Perivenular leukocytoclastic (neutrophils & monocytes) vasculitis Deposition of IgA, C3 & fibrin in small vessels Clinical manifestations Classic findings*:Palpable purpura/petechiae on lower extremities, Arthritis/arthralgia, Abdominal pain, intussusception, Renal disease (similar to IgA nephropathy) Other findings: scrotal pain & swelling Laboratory findings Normal platelet count & coagulation studies Normal to ↑ creatinine Hematuria ± RBC casts &/or proteinuria Management Supportive care (hydration & NSAIDs) for most patients Hospitalization & systemic glucocorticoids for severe symptoms *Clinical diagnosis requires purpuric rash plus ≥2 additional classic findings. NSAIDs = nonsteroidal anti-inflammatory drugs; RBC = red blood cell. anti-DNA antibodies are specific for systemic lupus erythematosus, which can cause arthralgias and petechiae. However, laboratory evaluation typically shows elevated erythrocyte sedimentation rate and complete blood count abnormalities (eg, anemia, leukopenia, thrombocytopenia), neither of which is seen in this patient renal disease in HSP may not be initially evident, as in this patient with a normal urinalysis, but it can develop months after symptom onset. Serial screening urinalyses should be performed, but renal ultrasonography is not typically indicated in HSP management.

Human rabies

Pathogenesis Transmission of rabies virus by a bite from an infected mammal Reservoir United States: bats (most common), raccoons, skunks, foxes Developing world: dogs Clinical features Encephalitic: Hydrophobia & aerophobia (due to pharyngeal spasm) Autonomic instability Spasticity Agitation & altered mental status Paralytic: Ascending flaccid paralysis Postexposureprophylaxis* Rabies immunoglobulin Rabies vaccine series Prognosis Coma, respiratory failure & death within weeks

Physiologic anemia of infancy

Pathogenesis ↑ Tissue oxygenation at birth → down-regulation of erythropoietin Clinical features Asymptomatic term infant* age 2-3 months Normocytic anemia (hemoglobin 9-11 g/dL) Low to normal reticulocyte count Treatment/prognosis Reassurance Anemia resolves with ↑ erythropoietin drive after age 3 months

Tuberous sclerosis complex

Pathophysiology Mutation (inherited or de novo) in TSC1 or TSC2 gene Autosomal dominant Clinical features Dermatologic: Ash-leaf spots Angiofibromas of the malar region Shagreen patches Neurologic: CNS lesions (eg, subependymal tumors) Epilepsy (eg, infantile spasms) Intellectual disability Autism & behavioral disorders (eg, hyperactivity) Cardiovascular: rhabdomyomas Renal: angiomyolipomas Surveillance Tumor screening: Regular skin & eye examinations Serial MRI of the brain & kidney Baseline echocardiography & serial ECG Baseline electroencephalography Neuropsychiatric screening

Sturge-Weber syndrome

Pathophysiology Mutation in GNAQ gene Clinical features Port-wine stain (trigeminal nerve [CN V1/V2] distribution) Leptomeningeal capillary-venous malformation Seizures ± hemiparesis Intellectual disability Visual field defects = homynomous hemianopsia Glaucoma Diagnosis MRI of the brain with contrast Management Laser therapy Antiepileptic drugs Intraocular pressure reduction

Many common medications (eg, cyclopentolate eye drops) can cause anticholinergic toxicity (confusion and hallucinations, hyperthermia, hypertension, tachycardia, dilated pupils, and dry mucous membrane), especially in children or the elderly. tx?

Physostigmine, a reversible acetylcholinesterase inhibitor, may be considered to treat severe anticholinergic toxicity

Exudative effusions

Pleural fluid analysis Pleural protein/serum protein ratio >0.5 Pleural LDH/serum LDH >0.6 Pleural LDH > 2/3 upper limit of normal for serum LDH Etiologies Empyema (purulent fluid, neutrophil-predominant, + gram stain/culture) Chylothorax (milky white fluid, ↑ triglycerides) Malignancy (abnormal cytology) Tuberculosis (+ acid-fast bacterium stain/culture)

Although most infantile hemangiomas (bright red raised plaque) require no treatment, -__________ should be given for those that increase risk of functional impairment (eg, periorbital) or ulceration/scarring (eg, large, segmental). port wine stain = flat red purple patch

Propranolol causes hemangioma regression by promoting local vasoconstriction.

Pneumothorax Spontaneous pneumothorax Tension pneumothorax

Spontaneous pneumothorax Associated features Primary: no preceding event or lung disease; often thin, young men Secondary: underlying lung disease (eg, COPD, CF) Signs & symptoms Chest pain, dyspnea ↓Breath sounds, ↓chest movement Hyperresonant to percussion Imaging Visceral pleural line Absent lung markings beyond pleural edge Increased brightness over the affected hemithorax on transillumination of the chest is supportive of the diagnosis. Chest radiograph may be performed in hemodynamically stable patients or if the diagnosis remains unclear after transillumination Management Small (≤2 cm): observation & oxygen administration Large & stable: needle aspiration or chest tube Tension pneumothorax Associated features Life-threatening Often due to trauma or mechanical ventilation Signs & symptoms Same as spontaneous plus: Hemodynamic instability Tracheal deviation away from affected side Imaging Same as spontaneous plus: Contralateral mediastinal shift Ipsilateral hemidiaphragm flattening Management Urgent needle decompression or chest tube placement Risk Factors: Mechanical ventilation (eg, nasal continuous positive airway pressure [nCPAP] in a neonate) also increases pneumothorax risk by increasing transpulmonary pressure. meconium aspiration syndrome (most common in postmature neonates) is associated with pneumothorax because meconium plugging of airways traps distal gas, promoting alveolar overdistension and rupture.

Lead poisoning dx tx

Targeted screening for elevated blood lead levels should be performed in children with risk factors (eg, home built before 1978). dx test: screen with capillary testing, repeat confirmatory testing by venous blood draw tx: remove from environment Dimercaptosuccinic acid (succimer) is typically used when lead levels are 45-69 µg/dL. Dimercaprol (British anti-Lewisite) plus calcium disodium edetate (EDTA) should be administered on an emergency basis for levels ≥70 µg/dL or acute encephalopathy. if elevated lead, screen for iron deficiency and prescribed oral ferrous sulfate

thalessemia minor v. iron deficiency anemia

Thalassemia minor typically presents with microcytic anemia and a normal red cell distribution width. An elevated reticulocyte count reflects a compensatory bone marrow response to the anemia.

The differential diagnosis for polyuria and dilute urine (<300 urine osmolality, <1.0006 specific gravity)

The differential diagnosis for polyuria and dilute urine includes central or nephrogenic diabetes insipidus (DI) or primary polydipsia. The water deprivation test can differentiate between DI and primary polydipsia. Following water deprivation, urine osmolality remains unchanged in DI (both central and nephrogenic) but increases in primary polydipsia. Water deprivation (eg, overnight fast) elevates serum sodium and serum osmolality; therefore, maximal secretion of antidiuretic hormone (ADH) (with resulting increased renal water reabsorption) and highly concentrated urine (eg, urine osmolality >600 mOsm/kg H2O) are normally expected following water deprivation. In diabetes insipidus and primary polydipsia, water deprivation produces the following results: In diabetes insipidus, renal concentrating ability is impaired due to renal ADH resistance (nephrogenic diabetes insipidus) or deficient ADH production (central diabetes insipidus). Therefore, urine remains dilute (urine osmolality <300 mOsm/kg H2O) following water deprivation. In young children, hereditary nephrogenic diabetes insipidus (eg, family history of polydypsia/polyuria) is the most common cause. In primary polydipsia, excessive water intake suppresses ADH, and polyuria is an appropriate response to excess water load. Following water deprivation, ADH increases and urine becomes concentrated. Primary polydipsia is associated with psychiatric or CNS disorders. The water deprivation test is performed under hospital supervision in older children and should not be used in very young children due to the risk of severe hypernatremia. An alternate test is the administration of desmopressin (an ADH analogue) to assess for renal concentrating ability.

Risk factors for RDS? RDS presents with tachypnea, retractions, grunting, nasal flaring, and cyanosis at birth. Despite initial resuscitation and respiratory support, patients can continue to decompensate and require intubation. Chest radiograph shows a diffuse reticulogranular pattern ("ground-glass opacities") and air bronchograms (Image). Treatment consists of antenatal prevention with corticosteroids and postnatal treatment with exogenous surfactant and respiratory support

The most important risk factor for RDS is prematurity; other factors that increase RDS risk include male sex, perinatal asphyxia, maternal diabetes, and cesarean section without labor.

Pathogenesis of Guillain-Barre syndrome

The pathogenesis of this syndrome is the immune-mediated demyelination of peripheral nerve fibers.

Lyme disease prevention

Tick removal Grasp with small forceps as close to skin as possible Pull firmly upwards without twisting Prophylaxis criteria (must meet all 5) Ixodes scapularis (deer tick) identified Tick attached for ≥36 hours or engorged Prophylaxis started within 72 hours of tick removal Local Borrelia burgdorferi infection rate ≥20% (eg, New England) No contraindications to doxycycline (eg, pregnancy) Antimicrobial prophylaxis Single-dose doxycycline

Nonbullous impetigo is characterized by papules and pustules with overlying honey-colored crusting. tx?

Topical antibiotics (eg, mupirocin) are the treatment of choice for localized infection. Oral antibiotics are warranted for widespread nonbullous impetigo, which makes topical therapy impractical. Cephalexin and dicloxacillin are possible options; amoxicillin is not recommended due to its limited activity against S aureus. Bullous impetigo also requires oral antibiotic therapy.

Transfusion-associated circulatory overload

Transfusion-associated circulatory overload can occur when a large volume of blood product is rapidly transfused, particularly in children age <3 with chronic anemia. Signs include respiratory distress, hypertension, tachycardia, and pulmonary edema within 6 hours of transfusion initiation. Management includes diuresis (eg, furosemide

Antibiotic prophylaxis for secondary prevention of rheumatic fever Severity Duration of therapy following last attack

Uncomplicated rheumatic fever = 5 years or until age 21* With carditis but no valvular disease = 10 years or until age 21* With carditis & valvular disease = 10 years or until age 40* prophylaxis with intramuscular benzathine penicillin G every 4 weeks to prevent recurrence.

infant with fever ≥39 C (102.2 F) with no identifiable source because presentation can be nonspecific (eg, fussiness, poor feeding). suspect what? esp abdominal tenderness

Urinary tract infection should be suspected. Urinalysis and urine culture are the first steps in evaluation. Abdominal ultrasonography assesses renal disease and is indicated in children age <2 with their first febrile UTI. However, the priority in this patient is to obtain a urinalysis and urine culture, followed by antibiotics.

Differential diagnosis of bone pain in sickle cell disease Causes: Vaso-occlusive crisis Osteomyelitis Avascular necrosis

Vaso-occlusive crisis Acute, severe pain Pain >1 site (eg, dactylitis) = swell hands and feet +/- Low-grade fever Erythema & warmth May be preceded by trigger (eg, dehydration) Osteomyelitis Acute or subacute pain Focal pain at 1 site (eg, long bone) Prolonged fever Erythema & warmth Positive blood culture Avascular necrosis Chronic, worsening pain (eg, femoral head) Absence of fever Absence of warmth or erythema

VACTERL

Vertebral, Anal, Cardiac, TracheoEsophageal, Renal, Limb defects

New-onset psychosis in an adolescent with neurologic dysfunction (eg, tremor, parkinsonism) raises concern for ?

Wilson disease. Pathogenesis involves defective hepatocellular copper transport, leading to copper accumulation in the liver and basal ganglia Neuropsychiatric symptoms often precede hepatic symptoms, such as hepatomegaly or jaundice, in teenagers

features of worrisome LN?

Worrisome Firm or hard Immobile >2 cm Generalized or supraclavicular systemic sx Present Reassuring Reassuring Soft Mobile <2 cm (normal: <1 cm) Localized* Absent Palpable cervical lymph nodes are common in children and young adults. In the absence of worrisome features (eg, >2 cm, firm, immobile lymph nodes; systemic symptoms), palpable lymph nodes can be observed for resolution.

Nephrolilthiasis in kids

Young children may have an atypical presentation of nephrolithiasis with isolated gross hematuria in the absence of abdominal or flank pain. labs: increased Ca dx test: renal and bladder ultrasound if equivocal, then do CT

Cat-scratch disease, caused by Bartonella henselae, most commonly presents with .

a mild papular or nodular skin lesion and ipsilateral lymphadenitis of gradual onset. These symptoms in the setting of cat exposure are sufficient to make a clinical diagnosis of cat-scratch disease Pasteurella multocida, normal oral flora in dogs and cats, can cause cellulitis and other soft tissue infection within 1-2 days of a dog or cat bite. This patient's adenopathy with indolent onset is inconsistent with P multocida Staphylococcus aureus and Streptococcus pyogenes are common causes of acute bacterial lymphadenitis, which presents with a warm, tender, erythematous lymph node. However, this child's papular skin lesion and gradual symptom onset are inconsistent with acute bacterial lymphadenitis.

Septic arthritis is usually caused by gram-positive aerobic bacteria, particularly Staphylococcus aureus. Therefore, empiric treatment with vancomycin is generally adequate. However, a minority of patients have continued symptoms despite a few days of vancomycin treatment, which usually indicates infection with a gram-negative bacterium. These patients require the addition of an antibiotic that covers aerobic gram-negative pathogens, such as

a third-generation cephalosporin (eg, ceftriaxone).

Malrotation with midgut volvulus usually presents with bilious vomiting in neonates. Initial evaluation in clinically stable patients includes

abdominal x-ray, which may be normal, so can skip and move to upper GI series. The gold standard for diagnosis is an upper gastrointestinal series, which shows a right-sided ligament of Treitz and a corkscrew duod

Biphasic (symptoms resolve then reoccur) or protracted (persistent symptoms despite treatment) anaphylaxis may require

additional doses of intramuscular (IM) epinephrine or intravenous epinephrine infusion if multiple (ie, 3) IM doses fail to relieve symptoms. Venom immunotherapy is a highly effective desensitization therapy for patients with anaphylaxis to bee (or other Hymenoptera) stings; however, it takes months to years to be effective and is not an appropriate treatment for acute anaphylaxis.

Precocious puberty is the onset of secondary sexual characteristics before age_____ Initial evaluation includes obtaining a ______

age 8 in girls and age 9 in boys bone age evaluation to assess skeletal maturation. An abdominal or pelvic ultrasound may be indicated in the evaluation of precocious puberty if there is concern for a peripheral production of endogenous hormones (eg, ovarian or adrenal tumor). Supportive findings would include an advanced bone age with suppressed LH and FSH levels. This patient's presentation first warrants a bone age evaluation. early precocious puberty -> do bone eval bone eval = advanced or normal 1- advanced age = check LH high LH = central precious puberty low LH -> GnRH test --> low LH = peripheral precocious puberty and high LH = central precocious puberty 2- normal bone age = breast development premature thelarche and pubic hair is premature adrenache due to benign genetic variant

Gynecomastia with abnormal features (eg, rapid progression, large size, occurrence outside pubertal age range) should include laboratory evaluation to assess for a pathologic cause. An increased β-hCG level in this setting is concerning for?

an hCG-secreting tumor, and a testicular ultrasound should be obtain

Brain tumor sx based on location: cerebral cerebellum brainstem

cerebral = HA, focal neuro deficits (hemiparesis,speech probs), increased ICP, seizures cerebellum = ataxia, increased ICP brainstem = ataxia, crainal nerve deficis=ts

Heat exhaustion

characterized by hyperthermia (typically ≤40 C [104 F]) associated with weakness, dizziness, profuse sweating, headache, and/or nausea. Mentation NORMAL, unlike in exertional heat stroke. Management: cooling (eg, cool water shower) and oral hydration with salt-containing fluids.

Biliary atresia

characterized by progressive fibrosis and obliteration of the extrahepatic bile ducts at age 2-8 weeks sx: failure to thrive, hepatomegaly, and conjugated hyperbilirubinemia

Analysis of variance (ANOVA)

compares the means of independent groups and determines only whether at least 2 group means differ. Nonoverlapping confidence intervals always imply a statistically significant difference between groups; however, the opposite is not necessarily true.

When transferring care, it is preferable to provide the medical record

directly to the new provider rather than providing a copy to the parent.

ppx for anaplasmosis or babesiosis?

ha, there is none, only works for lyme disease

Increasing head circumference and signs of increased intracranial pressure in children should be evaluated with

imaging study such as a CT scan of the brain. Treatment of hydrocephalus consists of a shunt that is placed from the ventricle to the peritoneum, pleura, or right atrium; which allows the excess CSF to drain rather than continue to collect in the ventricles. LP is only for suspected meningitis in kids, and relieve pressure of hydrocephalus in adults

Infant dyschezia

is a common, benign, and self-resolving functional disorder characterized by crying and straining prior to passing normal, soft stools. Alternative diagnoses of straining (eg, functional constipation, Hirschsprung disease) should be considered in an infant with hard stools, poor growth, delayed passage of meconium, or abnormal physical examination.

Postconcussion syndrome

is characterized by prolonged (>4 weeks) concussion symptoms (eg, headache, sleep disturbance). Management is symptomatic care because most patients improve within 3 months.

Stranger anxiety

normal part of development characterized by crying when an unfamiliar person approaches. It typically peaks at age 8-9 months and resolves by age 2 years

The appearance of "pink stains" or "brick dust" in neonatal diapers represent uric acid crystals. Uric acid excretion is especially high at birth and decreases until adolescence, when adult levels are observed. Uric acid crystals are commonly seen during the first week as the mother's milk is coming in, or in later months with the morning void after the infant begins to sleep through the night. management?

nothing

Punctate staining of the corneas with fluorescein dye is characteristic.

photokeratitis, maybe due to UV exposure

Posterior urethral valves

present in newborn boys with bladder distension, decreased urine output, and respiratory distress (due to oligohydramnios and subsequent lung hypoplasia). Initial evaluation includes renal and bladder ultrasound and voiding cystourethrogram.

Chronic granulomatous disease

results from an inability of phagocytes to produce hydrogen peroxide in their lysosomes. Abscesses due to fungi or catalase-positive bacteria (eg, Staphylococcus aureus) are the characteristic feature.

Nonoverlapping confidence intervals always imply a

statistically significant difference between groups; however, the opposite is not necessarily true.

tx? ADHD

stimulatant: amphetamine nonstimulant: atomexetine (SNRI) Alpha-2 adrenergic agonists (eg, clonidine, guanfacine) and certain antidepressants (eg, bupropion, tricyclic antidepressants) are other nonstimulant options, but these are usually reserved for children who respond poorly to a trial of stimulants or atomoxetine

Eosinophilic esophagitis

sx: presents with dysphagia, epigastric pain, vomiting, and food impaction. do not improve with PPI over 2 mo assoc with eczema, asthma dx: Endoscopy with circular rings and esophageal furrows are nonspecific BUT eosinophils on esophageal biopsy is diagnostic

red/brown heme+ urine dipstick, differential?

u/a = >3 RBC = hematuria (loss of RBC u/a = 0-2< -> myoglobinuria or hemglobinuria myoglobinuria = rhabdo, mm aches, elevated CK hemoglobinuria = intravascular hemolysis (ex: mech AV), decrease Hb and haptoglobin Hemoglobinuria occurs when free hemoglobin exceeds both the saturation of serum haptoglobin and the resorptive capacity of the proximal tubule. confirm with CBC to assess anemia and severity

For neonates with suspected volvulus (eg, bilious emesis, x-ray with dilated loops of bowel, normal rectal examination) who are hemodynamically stable, what imaging? hemodynamically unstable, what to do then?

upper GI series (consisting of x-rays with contrast material for improved visualization) is the diagnostic gold standard. In contrast, in a neonate with bilious emesis who is hemodynamically unstable (eg, hypotension, tachycardia) or has peritoneal signs (eg, firm, distended, tender abdomen), like this infant, the next step in management is exploratory laparotomy.

Characteristic features of Turner syndrome include

webbed neck, horseshoe kidney, and nail dysplasia, cystic hygroma, edema Congenital lymphedema occurs due to dysgenesis of the lymphatic system -> accumulation of protein-rich interstitial fluid in the hands, feet, and neck -> presents at birth with nonpitting carpal and pedal edema AND cystic hygroma

Bronchopulmonary dysplasia (chronic lung disease of the neonate),

which causes a persistent oxygen requirement, is commonly seen in premature infants, especially in those requiring prolonged mechanical ventilation or oxygen supplementation (in NRDS) -> can resolve 2-4 months or develop pulm aa htn

Angelman syndrome

why: suffer from paternal uniparental disomy (eg, deletion of the maternal copy of chromosome 15q11-q13). sx: As in PWS, these patients may have short stature and intellectual disability. However, other unique features include frequent smiling/laughter, hand-flapping, ataxia, and seizures.

Neonatal indirect hyperbilirubinemia (<24h pathologic, 24h physiologic) Cause Examples

↑ Bilirubin production Immune-mediated hemolysis (Coombs positive) Rh isoimmunizationABO incompatibility Nonimmune-mediated hemolysis (Coombs negative) RBC membrane defects (eg, spherocytosis) RBC enzyme defects (eg, G6PD deficiency) Cephalohematoma Polycythemia ↓ Bilirubin clearance Gilbert syndrome Crigler-Najjar syndrome ↑ Enterohepatic circulation Lactation failure jaundice Breastmilk jaundice

On average, exclusively breastfed newborns should feed for? During the first week of life, the number of wet diapers a day should equal? healthy neonates normally lose up to 7% of their birth weight in the first 5 days of life due to excretion of excess fluid acquired in utero and during labor. Gain back in/

≥10-20 minutes per breast every 2-3 hours. at least the infant's age in days (eg, a 4-day-old infant should have ≥4 wet diapers a day). 10-14 days

Anaphylaxis is caused by IgE-mediated mast cell degranulation in response to an allergen. It can be diagnosed when acute allergic symptoms are present in ?

≥2 organ systems (eg, skin/mucosa, gastrointestinal) after exposure to a likely allergen. urticaria/wheal rash, conjuctival erythema, periorbital edema, hyptension, tachycardia, wheezing, stridor Acute Epstein-Barr virus infection (ie, infectious mononucleosis) can cause pharyngitis, abdominal pain (due to splenomegaly), and a rash (if antibiotics such as amoxicillin are prescribed). However, abdominal pain is typically in the left upper quadrant and vague (rather than crampy), and the rash is typically maculopapular (not the wheals seen in this patient). In addition, fever, malaise, and cervical lymph node enlargement are commonly present.

Neuroimaging (eg, CT scan of the head, brain MRI) is indicated for features suggesting an alternate, life-threatening diagnosis, including the following:

Abnormal neurologic examination (eg, weakness, ataxia) Signs of increased intracranial pressure (eg, headache waking patient from sleep, papilledema) Rapidly increasing headache frequency

ASGN v IgA nephropathy

Acute poststreptococcal glomerulonephritis causes the formation of immune complex deposits, activation of the complement system, and subsequent damage within the glomerulus. Therefore, symptomatic patients typically have hematuria, hypertension, and edema. In addition, complement component C3 and total complement (CH50) are low; C4 is most often normal or slightly low. Like APSGN, IgA nephropathy can present with nephritic syndrome; however, IgA nephropathy is typically associated with normal serum complement levels, likely due to the weak complement-fixing activity of IgA compared to that of IgG and IgM.

Causes of stridor in infants & toddlers: Acute and Chronic

Acute: Croup Parainfluenza virus, most cases in fall/winter Inspiratory or biphasic stridor, "barky" cough, infectious symptoms (fever, pharyngitis) improve with tripod/extension Foreign body aspiration ± Choking episode Inspiratory stridor &/or wheeze, focally diminished breath sounds Recurrent pneumonia Chronic: Laryngomalacia "Floppy" supraglottis, prominent age 4-8 months Inspiratory stridor worsens when feeding, crying, or supine; improves when PRONE Vascular ring Great vessels encircle & compress trachea Biphasic stridor that improves with neck extension Esophageal compression = no solid food, vomit Airway hemangioma Hemangiomas enlarge in the first few weeks of life Worsening biphasic stridor, concurrent skin hemangiomas ("beard distribution")

Developmental milestones during toddlerhood Age Gross motor Fine motor Language Social/Cognitive 12 months 18 months 2 years 3 years 4 years 5 years

Age: 12 months Gross Motor: Stands well Walks first steps independently Throws a ball Fine motor: 2-finger pincer grasp Language: Says first words (other than "mama" & "dada") Social/Cognitive: Separation anxiety Follows 1-step commands with gestures Age: 18 months Gross motor: Runs Kicks a ball Fine motor: Builds a tower of 2-4 cubes Removes clothing Language: 10- to 25-word vocabulary Identifies ≥1 body parts Social/cognitive: Understands "mine" Begins pretend play Age: 2 years Gross motor: Walks up/down stairs with both feet on each step Jumps Fine motor: Builds a tower of 6 cubes Copies a line Language: Vocabulary ≥50 words 2-word phrases Social/Cognitive: Follows 2-step commands Parallel play Begins toilet training Age: 3 years Gross motor: Walks up/down stairs with alternating feet Rides tricycle Fine motor: Copies a circle Uses utensils Language: 3-word sentences Speech 75% intelligible Social/Cognitive: Knows age/gender Imaginative play Age: 4 years Gross Motor: Balances & hops on 1 foot Fine motor: Copies a cross Language: Identifies colors Speech 100% intelligible Social/Cognitive: Cooperative play Age: 5 years Gross motor: Skips Catches ball with 2 hands Fine motor: Copies a square Ties shoelaces Dresses/bathes independently Language: Prints letters Counts to 10 5-word sentences Social/Cognitive: Has friends Completes toilet training

ADHD v. intellectual disability

Although differentiating isolated intellectual disability from ASD in young, nonverbal children is often difficult, this patient's deficits in social responsiveness and interaction are more suggestive of ASD. Children with isolated intellectual disability typically exhibit social responsiveness appropriate to their developmental level. Language delay without an attempt to compensate through nonverbal means of communication is characteristic of ASD.

Primary immunodeficiency syndromes Classifications Age of onset Key features Laboratory findings Examples

B-cell disorders Variable (>4-6 months) Encapsulated bacteria (recurrent sinopulmonary infection) Enterovirus* = only XLA ↓ Ig & vaccine response X-linked agammaglobulinemia Common variable immunodeficiency T-cell (& combined B- & T-cell) disorders Early (<4-6 months) Viral, bacterial & fungal infections (eg, Candida, Pneumocystis) Failure to thrive ↓ Leukocytes ± ↓ Ig & vaccine response DiGeorge syndrome (T) Severe combined immunodeficiency (B & T) Wiskott-Aldrich syndrome (B & T) Ataxia-telangiectasia (B & T) Phagocyte disorders Early (childhood) Skin & soft tissue infections Fungal infections Catalase-positive organisms** = CGD Normal Ig Impaired oxidative burst** = CGD Chronic granulomatous disease Leukocyte adhesion defect Complement disorders Variable Neisseria infections Autoimmune disease ↓ CH50 Normal leukocytes & Ig C1q deficiency = SLE, recurrent sinopuolm early Terminal complement (C5-C9) deficiency

Patients with congenital long QT syndrome (can be associated with senorineuronal deafness, AD or AR)are at risk for polymorphic ventricular tachycardia that leads to syncope or sudden cardiac death, especially during periods of rapid heart rate and high sympathetic activity. tx?

Beta blockers (eg, propranolol, nadolol) dampen sympathetic activity and shorten the QT interval at high heart rates to reduce the risk of these complications.

ITP v. TTP difference?

Bleeding from idiopathic thrombocytopenic purpura (ITP), a condition in which autoantibodies form against platelet surface antigens, is typically treated with intravenous immunoglobulin. ITP can occur after a viral illness, but patients have isolated thrombocytopenia. Plasma exchange treats thrombotic thrombocytopenic purpura, which is characterized by thrombocytopenia due to the formation of intravascular thrombi and microangiopathic hemolytic anemia. However, because the bone marrow is intact, there would be a strong reticulocyte response to the anemia.

presence of nasal polyps, recurrent sinopulmonary infections, digital clubbing, and signs of pancreatic insufficiency (eg, poor growth, deficiency of fat-soluble vitamins) should prompt an evaluation for? Differential?

CF Not all patients with cystic fibrosis are identified through newborn screening. Differential: Eosinophilic granulomatosis with polyangiitis (formerly Churg-Strauss syndrome) is a systemic vasculitis characterized by chronic rhinosinusitis, including nasal polyps, asthma, and prominent eosinophilia. It is typically diagnosed in adulthood, and diffuse wheezing (not crackles) would be expected. IgA plays a significant role in mucosal immunity in the respiratory and gastrointestinal tracts. Patients are typically Asymptomatic with IgA deficiency, although recurrent bacterial sinopulmonary infections can occur. Digital clubbing and failure to thrive are unlikely manifestations. Severe allergic rhinitis can predispose patients to epistaxis as well as recurrent sinusitis and nasal polyposis; however, lung disease with chronic hypoxia, rales, and digital clubbing is not expected. Severe combined immunodeficiency usually results from X-linked mutations that lead to recurrent severe infections, poor growth, and chronic diarrhea. Infants who do not undergo hematopoietic stem cell transplantation usually die from fulminant infections BEFORE age 12 months

Congenital hypothyroidism

Cause: thyroid dysgenesis most likely (protein synthesis defect is rare) Clinical manifestations Usually asymptomatic at birth (rarely causes delayed meconium passage) After maternal thyroxine wanes (weeks to months): Lethargy, poor feeding, Enlarged fontanelle, Protruding TONGUE, puffy face, umbilical hernia, Constipation, Prolonged JAUNDICE, Dry skin Diagnosis ↑ TSH & ↓ free thyroxine levels Newborn screening Treatment Levothyroxine* Prognosis No deficits if treatment started in neonatal period Untreated disease is associated with neurocognitive dysfunction (eg, ↓ intelligence quotient)

Lab findings in XLA

Characteristic laboratory findings in XLA include low levels of all immunoglobulins as well as deficient antibody response to vaccines, as seen here. Flow cytometry of peripheral blood is performed to determine the affected lymphocyte subpopulation and shows markedly reduced CD19+ B cells in patients with XLA. Genetic testing confirms the diagnosis. Life-long immunoglobulin replacement therapy reduces the rate and severity of infections.

superficial hemangioma v cherry angioma

Cherry angiomas are the most common benign vascular proliferations in adults. They are small, bright red or violaceous macules or papules composed of dilated capillaries and postcapillary venules in the papillary dermis. They are usually widespread on the trunk and increase in number as the patient ages. Superficial infantile hemangiomas/ strawberry hemangioma are benign capillary tumors of childhood. They typically appear during the first weeks of life, initially grow rapidly, and regress spontaneously. Complicated lesions may require treatment with beta blockers.

ADHD v. global developmental delay

Children with impaired social communication, restricted interests, and repetitive behaviors require assessment for autism spectrum disorder. Variable degrees of language and intellectual impairment may be present. Global developmental delay is used to describe children under age 5 with delayed milestones in multiple intellectual areas and who are too young to undergo formal testing for intellectual deficits. In contrast to ASD, patients with global developmental delay still display social responsiveness and make efforts to communicate.

CMV/toxo

Chorioretinitis, or inflammation and scarring of the retina and choroid, is typically caused by chronic infection (eg, Toxoplasma gondii, cytomegalovirus). Congenital toxoplasmosis is the most common etiology, and additional findings include MACROcephaly (due to hydrocephalus), hepatosplenomegaly, and seizures.

Acute rhinosinusitis in children

Clinical features Nasal congestion &/or purulent drainage Facial pressure/pain ± Fever, cough, headache, loss of smell, ear pain Etiology Viral No fever or early resolution of fever Mild symptoms (eg, well-appearing, mild facial pain) Improvement & resolution by day 5-10 Bacterial Fever ≥3 days OR New/recurrent fever after initial improvement OR Persistent symptoms ≥10 days Treatment Intranasal saline, saline irrigation, NSAIDs Antibiotics if bacterial

Concussion

Clinical features Transient neurologic disturbance (eg, dizziness, disorientation, amnesia) after mild TBI; Do not need to see LOC No structural intracranial injury Diagnosis is based on clinical findings of neurologic disturbance (eg, headache, noise sensitivity, emotional changes = irritable) without evidence of structural intracranial injury. Management Remove from same-day physical play Neurologic evaluation Rest for ≥24 hr Gradual return to normal activity if symptoms do not worsen Physical: light aerobic exercise → noncontact sports → contact sports Neurocognitive: limited screen time, school accommodations (eg, frequent breaks, shortened days)

Strabismus (ocular misalignment)

Clinical findings Constant eye deviation at any age Intermittent eye deviation at age >4 months Eye deviation on cover test Asymmetric corneal light reflexes Asymmetric intensity of red reflexes Torticollis or head tilt Treatment Strengthen deviated eye (eg, patch unaffected eye, cycloplegic drops to blur unaffected eye) Correct refractive errors (ie, prescription glasses) Surgery Complications Amblyopia (reduced visual acuity) Diplopia

Langerhans cell histiocytosis

Clinical findings Lytic bone lesions (eg, skull, jaw, femur) Skin lesions (purplish papules, eczematous rash) Lymphadenopathy, hepatosplenomegaly Pulmonary cysts/nodules Central diabetes insipidus - high sodium in serum, polyuria Diagnosis Langerhans cells on bone/skin biopsy Treatment benign, but infiltrative so: Chemotherapy (prednisone ± vinblastine) Desmopressin for diabetes insipidus A small, round hypodensity is seen on x-ray = osteoid osteoma Osteosarcoma is the most common primary bone malignancy and presents with localized pain and swelling in long bone metaphyses. X-ray findings include periosteal elevation (Codman triangle) and a "sunburst" pattern of new bone formation, which are not seen on this patient's skeletal surve

Choanal atresia

Clinical findings Unilateral (most common) Chronic nasal discharge Symptomatic during childhood Bilateral Cyanosis that worsens with feeding & improves with crying Noisy breathing (stertor) Symptomatic shortly after birth May be associated with CHARGE syndrome (CHARGE = Coloboma, Heart defects, Atresia choanae, growth Retardation, Genital and Ear abnormalities.) Diagnosis Inability to pass catheter past nasopharynx Confirmation with CT scan or nasal endoscopy Treatment Oral airway Surgical repair

Organophosphate poisoning

Common exposures Pesticide: farmer/field worker, pediatric ingestion, suicide attempt Nerve agent: multiple patients presenting with similar symptoms Manifestations Muscarinic:Diarrhea/diaphoresis, Urination, Miosis, Bronchospasms, bronchorrhea, bradycardia, Emesis, Lacrimation, Salivation Nicotinic: muscle weakness, paralysis, fasciculations Management Remove patient's clothes, irrigate skin Atropine reverses muscarinic symptoms (central action) Pralidoxime reverses nicotinic and muscarinic symptoms (administer after atropine) physostigmine = Ache inhibitor = more Ach = worsens the situation LMAO

Vegan diet Composition: Complete abstinence from animal-derived foods Emphasis on fruits, vegetables, legumes Potential benefits: Lower blood glucose & cholesterol Reduced risk of cardiovascular disease (eg, heart disease, stroke) Potential nutritional deficiencies?

Common: vitamin B12, vitamin D, calcium Possible: iodine, iron, zinc Not protein loss: soy is a complete protein source, and patients can also obtain all the essential amino acids from a blended protein source (eg, grains plus legumes)

A fibrotic neck mass may be present on examination, and limited range of motion of the neck increases the risk of positional plagiocephaly. Dx?

Congenital muscular torticollis is a postural neck deformity due to tightening of the sternocleidomastoid muscle and presents with ipsilateral head tilt and contralateral chin deviation. Cystic hygromas are congenital lymphatic malformations located in the posterior triangle of the neck. They are often detected prenatally and associated with aneuploidy. Postnatal examination shows a fluctuant mass that transilluminates

Hypoxic-ischemic brain injury (eg, drowning) can lead to widespread neuronal cell death, cerebral edema, and increased intracranial pressure (ICP). Severely increased ICP can cause?

Cushing triad, characterized by hypertension, bradycardia, and irregular respirations Widespread neuronal necrosis then leads to cerebral edema -> increases ICP -> compresses small arterioles, decreasing cerebral blood flow -> acutely increased ICP (ie, Cushing reflex) attempts to restore cerebral perfusion: Hypertension: the sympathetic nervous system is activated to increase systemic blood pressure to maintain cerebral perfusion pressure (mean arterial pressure − ICP = cerebral perfusion pressure). Bradycardia: hypertension may stimulate baroreceptors in the carotid artery and aortic arch, triggering a parasympathetic response that induces bradycardia. When accompanied by irregular respirations, which occur due to impaired brainstem function and may be masked in mechanically ventilated patients, this is called the Cushing triad. Cushing triad is a poor prognostic sign and often indicates cerebral herniation is imminent.

Muscular dystrophies:

Duchenne Genetics X-linked recessive Deletion of dystrophin gene Onset Age 2-3 Clinical presentation Progressive weakness Gowers sign Calf pseudohypertrophy Associated findings Cardiomyopathy Scoliosis Prognosis Wheelchair-dependent by adolescence Death at age 20-30 from respiratory or heart failure Becker Genetics X-linked recessive Deletion of dystrophin gene Onset Age 5-15 Clinical presentation Milder weakness compared with that in Duchenne Associated findings Cardiomyopathy Prognosis Death at age 40-50 from heart failure Classic myotonic Genetics: Autosomal dominant Trinucleotide repeat in DMPK gene Onset Age 12-30 Clinical presentation Facial weakness Grip myotonia (hand) Dysphagia Associated findings Arrhythmias Cataracts Excessive daytime sleepiness Testicular atrophy Prognosis Death from respiratory or heart failure depending on age of onset

Classic congenital adrenal hyperplasia occurs due to 21-hydroxylase deficiency, which leads to the buildup of 17-hydroxyprogesterone and testosterone. Genotypically female newborns (46,XX) have virilized genitalia (eg, underdeveloped phallus) and nonpalpable gonads. When do electrolyte abnorm present?

Electrolyte abnormalities do not develop until age 1-2 weeks. Diff: Placental aromatase deficiency prevents the conversion of placental androgens into estrogens. Androgen excess causes virilization of the female fetus. The mother is also typically virilized, which is not seen in this patient's mother, due to the transplacental transfer of androgens. 5-Alpha reductase deficiency causes defective conversion of testosterone to dihydrotestosterone and classically presents in genotypically male (46,XY) newborns with female or undervirilized external genitalia. In addition, the testosterone level is normal.

Bronchiolitis

Epidemiology Age <2 years RSV most common cause Clinical presentation Antecedent nasal congestion/discharge & cough Wheezing/crackles & respiratory distress(eg, tachypnea, retractions, nasal flaring) Treatment Supportive care Complications Apnea (especially age <2 months), recurrent wheezing in childhood Respiratory failure Prevention Palivizumab for selected infants: <29 weeks gestation Chronic lung disease of prematurity Hemodynamically significant congenital heart disease

Craniopharyngioma

Epidemiology Benign, slow growing Derived from remnants of Rathke pouch Bimodal age distribution (age 5-14 & 50-75) Clinical features Optic chiasm compression → bitemporal hemianopsia Pituitary stalk compression → endocrinopathies Growth failure in children (↓ TSH or ↓ GH) Pubertal delay in children or sexual dysfunction in adults (↓ LH & FSH) Diabetes insipidus (↓ ADH) Diagnosis MRI/CT scan: CALCIFIED &/or cystic suprasellar mass Treatment Surgical resection ± radiation therapy Differential: Pituitary adenomas are benign neoplasms that secrete excess prolactin, resulting in galactorrhea and amenorrhea. They can also present with bitemporal hemianopsia. Unlike craniopharyngiomas, pituitary adenomas do not calcify. Similar to craniopharyngiomas, Rathke cleft cysts are derived from Rathke pouch remnants. If large, they can cause visual field defects and endocrinopathies, but Rathke cleft cysts are not associated with calcifications.

Migraine in children

Epidemiology Equal incidence in boys & girls until puberty ↑ Risk in adolescent girls Clinical features Pulsatile/throbbing headache lasting hours to days Bilateral* or unilateral Associated symptoms: Photophobia & phonophobia, Nausea/vomiting, Autonomic symptoms* (eg, facial sweating, tearing, nasal congestion) ± Preceding aura (eg, scintillating scotoma) Normal neurologic examination Abortive treatment Acetaminophen, nonsteroidal anti-inflammatory drugs Triptans Antiemetics (eg, promethazine, prochlorperazine) Ergots (eg, dihydroergotamine) Differential Brain masses (eg, pituitary adenoma) compressing the optic chiasm can cause visual field defects (eg, homonymous hemianopia), but visual symptoms would be persistent. In addition, idiopathic intracranial hypertension can cause headache, transient visual obscurations, and visual field defects, but papilledema would be expected on examination.

Minimal change disease

Epidemiology Most common cause of nephrotic syndrome in children Pathogenesis T-cell-mediated injury to podocytes → ↑ molecular permeability to albumin Clinical features Edema (eg, periorbital, scrotal, generalized) Fatigue ± Abdominal pain Diagnosis Urine: nephrotic range proteinuria Serum: hypoalbuminemia, ± hyperlipidemia Kidney biopsy*: diffuse effacement of foot processes on EM (no need for clinciial dx!! onlly if tx resistant or abnormal labs) Treatment Corticosteroids Prognosis Most achieve remission, but relapse is common

Acute lymphoblastic leukemia

Epidemiology Most common childhood cancer Peak age: 2-5 years Clinical features Nonspecific systemic symptoms (eg, fever, weight loss) Leukemic cells overcrowd bone marrow: Pallor/fatigue (anemia), Easy bruising/petechiae (thrombocytopenia), neutropenia (infxn)Bone pain Extramedullary spread: Lymphadenopathy, Hepatosplenomegaly, Testicular enlargement Mediastinal mass (T cell lineage): airway compression (diminished breath sounds bilaterally) &/or superior vena cava syndrome =SVC obstruction leads to venous swelling of the head and neck (eg, jugular venous distension), as well as laryngeal edema (eg, cough, difficulty breathing Leptomeningeal spread: neurologic symptoms (eg, cranial nerve deficits, meningismus) Evaluation& diagnosis Complete blood count*(low/high WBC) Bone marrow biopsy (>25% lymphoblasts is diagnostic) with flow cytometry Lumbar puncture to evaluate for CNS involvement tx: chemo

Hereditary spherocytosis

Epidemiology Usually autosomal dominant Northern European descent Clinical presentation Hemolytic anemia Jaundice Splenomegaly Laboratory findings ↑ MCHC Negative Coombs test Spherocytes on peripheral smear ↑ Osmotic fragility on acidified glycerol lysis test Abnormal eosin-5-maleimide binding test Treatment Folic acid supplementation Blood transfusion Splenectomy Beta thalassemia is caused by a defect in the beta globin chain. It is common among patients of Mediterranean heritage and can result in microcytic, nonimmune, hemolytic anemia. However, it does not typically present until after age 6 months when fetal hemoglobin decreases. In addition, MCHC is usually decreased in beta thalassemia.

Hereditary spherocytosis

Epidemiology: Usually autosomal dominant Northern European descent Clinical presentation: Hemolytic anemia Jaundice Splenomegaly Laboratory findings: ↑ MCHC Negative Coombs test Spherocytes on peripheral smear ↑ Osmotic fragility on acidified glycerol lysis test Abnormal eosin-5-maleimide binding test Treatment: Folic acid supplementation Blood transfusion Splenectomy Differential: Beta thalassemia is caused by a defect in the beta globin chain. It is common among patients of Mediterranean heritage and can result in microcytic, nonimmune, hemolytic anemia. However, it does not typically present until after age 6 months when fetal hemoglobin decreases. In addition, MCHC is usually decreased in beta thalassemia. Paroxysmal nocturnal hemoglobinuria (PNH) is diagnosed by erythrocyte CD55 and CD59 protein testing. Clinical manifestations of PNH include hemolytic anemia, cytopenias, and hypercoagulability. However, spherocytes are not seen in PNH

Benign neonatal rashes Diagnosis Onset Clinical features Management/resolution

Erythema toxicum neonatorum Birth to age 3 days Pustules with erythematous base on trunk & proximal extremities Observation Resolves within a week Milia Birth Firm, white papules on face Observation Resolves within a month Miliaria rubra Any age, but not present at birth Erythematous, papular rash on occluded & intertriginous areas Avoid overheating (eg, cool environment, thin/cotton clothing) If severe, topical corticosteroid Neonatal pustular melanosis Birth Nonerythematous pustules → evolve into hyperpigmented macules with collarette of scale Diffuse, may involve palms & soles Observation Pustules resolve within days Hyperpigmentation may last months Congenital dermal melanocytosis is commonly found in African, Asian, and Hispanic infants and presents as gray-blue macules, most commonly on the sacrum and buttocks. The spots usually fade spontaneously during childhood. Neonatal cephalic pustulosis Around age 3 weeks Erythematous papules & pustules on face & scalp only Observation Resolves in weeks to months If severe, topical corticosteroid or ketoconazole

Friedreich ataxia

Genetics Autosomal recessive Loss-of-function, trinucleotide repeat (GAA) in frataxin gene Clinical features Neurologic deficits: Cerebellar ataxia, Dysarthria, Loss of vibration and/or position sense, Absent deep tendon reflexes = result from degeneration of the spinal tracts (ie, spinocerebellar tracts, posterior columns). Hypertrophic cardiomyopathy Skeletal deformities (eg, scoliosis) Diabetes mellitus Prognosis Mean survival age 30-40 Mortality due to cardiac dysfunction (eg, arrhythmia, congestive heart failure) Acute cerebellar ataxia typically occurs following an infection (eg, varicella infection), and presents with acute onset (within hours or days) of ataxia, nystagmus, and dysarthria. Vibratory and position senses and reflexes are not affected, and symptoms usually resolve within 2 weeks.

Myotonic dystrophy

Genetics: Autosomal dominant CTG trinucleotide repeat expansion Repeat length inversely correlating with age of onset Clinical presentation: Myotonia (delayed muscle relaxation) Progressive muscle weakness (eg, face, hands) Childhood form: cognitive & behavioral problems Infantile form: hypotonia, arthrogryposis Grip myotonia, as seen in this patient, is characterized by difficulty opening the hand after squeezing it closed and is highly suggestive of myotonic dystroph Associated findings: Arrhythmias Cataracts Excessive daytime sleepiness Testicular atrophy/infertility Diagnosis Genetic testing Treatment Symptomatic care However, the motor dysfunction in cerebral palsy is usually characterized by hypertonicity and hyperreflexia, not myotonia.

Clinical presentation of methemoglobinemia

History Exposure to oxidizing substances (eg, dapsone, nitrites, local/topical anesthetic) Clinical examination Cyanosis Pulse oximetry saturation ~85% Dark chocolate-colored blood Laboratory findings Saturation gap (>5% difference between oxygen saturation on pulse oximetry & ABG) Normal PaO2 Tx: Methylene blue acts as an electron acceptor for NADPH and is reduced to leucomethylene blue, which in turn reduces methemoglobin to hemoglobin. High-dose ascorbic acid (vitamin C) acts as a reducing agent and can be used when methylene blue is unavailable or contraindicated (eg, glucose-6-phosphate dehydrogenase deficiency) When exposed to an oxidizing agent, at least one of the four iron molecules is oxidized to the ferric (Fe3+) state, resulting in acute methemoglobinemia. Ferric iron is unable to bind oxygen; in addition, the ferric state changes the hemoglobin structure and causes ferrous sites to have an increased affinity for oxygen (ie, "left shift" on oxygen-dissociation curve). The increased oxygen affinity prevents oxygen release in peripheral tissues (ie, decreased oxygen delivery). In contrast, arterial blood gas testing analyzes only unbound arterial oxygen (as opposed to hemoglobin-bound oxygen) and displays a falsely elevated oxygen saturation level, shown as normal PaO2

VZV immunization process? What to do when in contact?

Immunity to varicella is acquired by prior infection or by receiving 2 doses of VZV vaccine (at ages 1 and 4 years) Postexposure prophylaxis with VZV vaccine is indicated for this incompletely immunized child age >1 year who was exposed within the preceding 5 days. For susceptible individuals who cannot receive live-virus vaccines (eg, immunocompromised or pregnant patients), postexposure prophylaxis can be provided using varicella immunoglobulin. Infants (age <1 year) outside the neonatal period are not eligible for VZV vaccine and do not require immunoglobulin as they are at lower risk than neonates or older children. If immunized, just observe

Kawasaki disease sx? associated riks?

Kawasaki disease Pathophysiology & epidemiology Medium-vessel vasculitis Usually affects children age <5 ↑ Incidence in East Asian ethnicity Diagnostic criteria Fever ≥5 days plus ≥4 of the following: Conjunctivitis: bilateral, nonexudative Mucositis: injected/fissured lips or pharynx, strawberry tongue Cervical lymphadenopathy: ≥1 node >1.5 cm Rash: perineal erythema & desquamation; polymorphous, generalized Erythema & edema of the hands/feet, periungual desquamation CRASH_BURN Laboratory findings ↑ Platelets & WBCs; ↓ hemoglobin ↑ Acute-phase reactants (eg, C-reactive protein) ↑ AST & ALT Sterile pyuria Treatment Intravenous immunoglobulin & aspirin Complications Coronary artery aneurysms Ventricular dysfunction = lymphocytic myocarditis - HF, S3 gallop Echocardiogram is indicated for all patients to assess for coronary artery aneurysms (increase after acute illness)

Lactation failure jaundice vs breast milk jaundice Diagnosis Timing Pathophysiology Clinical features

Lactation failure jaundice Age <1 week Insufficient intake of breast milk: ↓ Bilirubin elimination ↑ Enterohepatic circulation Suboptimal breastfeeding Signs of dehydration If bilirubin continues to rise despite efforts to optimize lactation, formula supplementation may be necessar Breast milk jaundice Age >1 week (peaks at 2 weeks) ↑ β-glucuronidase in breast milk: ↑ Deconjugation of intestinal bilirubin ↑ Enterohepatic circulation Adequate breastfeeding Well-hydrated

Radial head subluxation (nursemaid's elbow)

Mechanism Axial traction on forearm with elbow extended (child pulled, lifted, or swung by arm) Physical findings Arm held extended & pronated No swelling, deformity, or focal tenderness No x-ray needed, because unable to visualize bones appropriately and unhelpful unless suspect fracture. Treatment Hyperpronation of forearm OR Supination of forearm & flexion of elbow No post reduction films needed

Chronic suppurative otitis media

Microbiology Often polymicrobial Staphylococcus aureus & Pseudomonas aeruginosa Fungi (eg, Aspergillus) Symptoms hx of recurrent acute otitis media Chronic (>6 wk), purulent otorrhea Hearing loss Absence of ear pain Examination Tympanic membrane perforation Otorrhea within normal-appearing external auditory canal dx is clinical Treatment Ototopical fluoroquinolone drops (eg, ofloxacin) -> poorly vascularized area due to inflammation and scarring, oral will not help Complications Infectious spread (eg, mastoiditis, meningitis, intracranial abscess) Permanent hearing loss

Acute otitis media

Microbiology Streptococcus pneumoniae Nontypeable Haemophilus influenzae Moraxella catarrhalis Risk factors Age (6-18 months) = eustachian tubes are straight and narrow and drain poorly in young children Lack of breastfeeding =decreased bacterial colonization of the nasopharynx Day care attendance Smoke exposure = Passive smoke exposure is associated with recurrent AOM, likely due to increased bacterial colonization of the nasopharynx. Clinical features Bulging TM Middle ear effusion plus TM inflammation (eg, fever, otalgia, erythema) Treatment Initial: amoxicillin 2nd-line: amoxicillin-clavulanate Penicillin-allergic: clindamycin or azithromycin Complications TM perforation Conductive hearing loss Mastoiditis Meningitis

Neurofibromatosis types 1 & 2

NF1 (von Recklinghausen disease) Gene mutation: NF1 tumor suppressor gene; codes the protein neurofibromin Location of mutated gene Chromosome 17 Main clinical features Café-au-lait spots axillary freckling Multiple neurofibromas low-grade optic pathway glioma = can grow large enough to compress the optic nerve and cause decreased visual acuity, alterations in color vision, optic nerve atrophy, and proptosis. NF2 (central neurofibromatosis) Gene mutation: NF2 tumor suppressor gene; codes the protein merlin Location of mutated gene Chromosome 22 Main clinical features Bilateral acoustic neuromas = hearing loss and difficulty with balance.

Atelectasis and diffuse alveolar collapse are seen on chest x-ray as a reticulogranular pattern (ie, ground-glass appearance) with air bronchograms.

NRDS

Focal seizure

Onset Neuronal discharge begins in 1 cerebral hemisphere Symptoms may be motor, sensory, or autonomic Underlying structural abnormality (eg, tumor) more likely than with a generalized seizure Categories No impairment of awareness Occurs when seizure remains localized to 1 hemisphere Impairment of awareness Occurs when seizure spreads to the other hemisphere Often associated with automatisms (eg, chewing) Diagnosis EEG Brain MRI (may identify a triggering, structural lesion) Differential: Absence seizures are generalized (ie, originating from both cerebral hemispheres) and present with staring spells, with or without automatisms, lasting only 10-20 seconds. In contrast to this patient, absence seizures are characteristically easily provoked by hyperventilation and not associated with a postictal period. Juvenile myoclonic epilepsy presents in adolescents with myoclonic jerks immediately on wakening. Absence and generalized tonic-clonic seizures may also be seen. This patient's age and focal seizure make this diagnosis unlikely Lennox-Gastaut syndrome typically presents by age 5 with intellectual disability and severe seizures of varying types (eg, atypical absence, tonic). Interictal EEG demonstrates a slow spike-and-wave pattern.

Damage to the optic nerve classically causes RAPD. On examination, when light shines into the unaffected eye, the bilateral pupils constrict equally (consensual light reflex). When light then shines into the injured eye, both pupils dilate. Emergency CT scan of the orbit confirms the diagnosis. Vision improves with conservative management in approximately half of patients, but surgical decompression may be required. Poor initial visual acuity (eg, loss of light perception) is associated with a worse prognosis

Optic nerve injuries (eg, contusion, avulsion) may occur indirectly following head trauma due to shearing forces on the optic canal. Patients have an acute decrease in visual acuity and a relative afferent pupillary defect in the injured eye

<18 y/o deny medical tx but family wants it, what do you do?

Parental consent is required prior to providing nonemergency medical care for a minor who does not qualify for confidential care (eg, pregnant) or is not emancipated (eg, married). Assent from the child is ideal but not required to proceed with treatment.

Clinical features of pineal gland masses

Parinaud syndrome Limited upward gaze Upper eyelid retraction (Collier sign) Pupillary abnormalities (ie, reactive to accommodation but not to light) Obstructivehydrocephalus Papilledema Headache, vomiting Ataxia

Niemann-Pick disease

Path: Spingomyelinase deficiency, AR Onset: Age 2-6 months Sx: hypotonia, lack of milestones, feeding difficulties HEPATOSPLENOMEGALY, a protuberant abdomen, HYPOreflexia/Areflexia, and a "CHERRY-RED" macula on ophthalmologic examination. (dif b/w tay sach: hyperreflexia, and NO hepatosplenomegaly) Tx: supportive

Tay-Sachs disease

Path: β-hexosaminidase A deficiency, AR Onset: Age 2-6 months Sx: hypotonia, lack of milestones, feeding difficulties HYPEreflexia, and a "CHERRY-RED" macula on ophthalmologic examination. (dif b/w niemann-pick: areflexia, and hepatosplenomegaly) Tx: supportive

Bronchopulmonary dysplasia

Pathogenesis "Old" BPD: prolonged mechanical ventilation & hyperoxia Chronic inflammation → fibrosis & interstitial edema "New" BPD: prematurity Arrest of pulmonary development → alveolar hypoplasia with ↓ septation Diagnosis ≥28 days of supplemental oxygen requirement ± Respiratory distress (eg, tachypnea, retractions) Chest x-ray Diffuse haziness ± Hyperinflation, cystic/fibrotic changes ("old" BPD) Treatment Optimize nutrition Wean respiratory support when possible

Classic congenital adrenal hyperplasia

Pathogenesis Autosomal recessive 21-Hydroxylase deficiency Clinical presentation Ambiguous genitalia in girls Salt-wasting syndrome* = Affects most girls & boys -> Hypotension, dehydration & vomiting Laboratory findings ↓ Sodium, ↑ potassium, ↓ glucose ↑ 17-Hydroxyprogesterone Treatment Glucocorticoids & mineralocorticoids High-salt diet Genital reconstructive surgery for girls Psychosocial support

DiGeorge syndrome/velocardiofacial syndrome

Pathogenesis Chromosome 22q11.2 deletion Defective development of pharyngeal pouches Clinical features Conotruncal cardiac defects (tetralogy of Fallot,truncus arteriosus, interrupted aortic arch) Abnormal facies Thymic hypoplasia/aplasia (T-cell deficiency) Craniofacial deformities (cleft palate) Hypocalcemia/Hypoparathyroidism

Diamond-Blackfan anemia

Pathogenesis Congenital erythroid aplasia = increased apoptosis of RBC Pure red cell aplasia (fanconi anemia = pancytopenia) Clinical findings Craniofacial abnormalities Triphalangeal thumbs Increased risk of malignancy short stature, cleft palate, and webbed necK Laboratory findings Macrocytic anemia = DBA typically presents in infancy with progressive pallor and poor feeding due to anemia, as seen in this patient. The heart rate increases to meet oxygen demands, and a faint systolic ejection (flow) murmur may be heard on examination due to increased turbulence across the valve. Reticulocytopenia Normal platelets, white blood cells Treatment Corticosteroids Red blood cell transfusions

Beckwith-Wiedemann syndrome

Pathogenesis Deregulation of imprinted gene expression in chromosome 11p15 Physical examination Fetal macrosomia, rapid growth until late childhood Omphalocele or umbilical hernia Macroglossia Hemihyperplasia Complications Wilms tumor Hepatoblastoma Surveillance Serum α-fetoprotein Abdominal/renal ultrasound Abdominal ultrasound and alpha-fetoprotein level testing should occur every 3 months from birth to age 4 and renal ultrasound every 3 months from age 4-8.

Drug-induced immune-mediated hemolytic anemia

Pathogenesis Drug coats erythrocytes (hapten) → IgG binding → splenic destruction of RBCs (extravascular hemolysis) Drug triggers immune complexes → complement-mediated destruction of RBCs (intravascular hemolysis) Manifestations Sudden onset (within hours of exposure) Anemia: fatigue, pallor, dyspnea Hemolysis: jaundice, dark urine, abdomen or back pain ↑ Reticulocytes, indirect bilirubin & LDH ↓ Haptoglobin Spherocytes on peripheral blood smear + Direct Coombs test (anti-IgG, anti-C3) Treatment Discontinue offending drug Transfusion (if severe) ± Glucocorticoids, IVIG

Necrotizing enterocolitis

Pathogenesis Gut mucosal wall invasion by gas-producing bacteria Intestinal inflammation, necrosis Risk factors Prematurity Very low birth weight (<1.5 kg [3.3 lb]) Enteral feeding (term infants with reduced mesenteric oxygen delivery from cyanotic congenital heart disease and/or hypotension are also at risk for intestinal ischemia and infarction) Clinical findings Nonspecific: apnea, lethargy, vital sign instability Gastrointestinal: Abdominal distension, Feeding intolerance, bilious emesis, Bloody stools X-ray findings Pneumatosis intestinalis (air in bowel wall) Pneumoperitoneum (free air under diaphragm) Complications Sepsis, disseminated intravascular coagulation Late: strictures, short-bowel syndrome Differential: Intussusception can cause bloody stools but typically presents at age 6 months to 3 years. X-rays can show a soft tissue mass in the right upper quadrant and a crescent sign, which represents the intussusceptum projecting into large bowel gas. A "target sign" or "bull's-eye lesion" (2 concentric circles of telescoped bowel) is classically seen on ultrasound. Malrotation with midgut volvulus typically presents with bilious vomiting and abdominal pain in neonates or young infants. X-ray usually reveals proximal gaseous distension and distal gasless abdomen due to obstruction involving the duodenum. This infant has pneumatosis, which is highly specific for NEC, as well as visible air in the large bowel.

Alport syndrome

Pathogenesis Inherited (most commonly X-linked) Mutation of type IV collagen Clinical findings Nephropathy:Hematuria (microscopic or gross) Progressive renal insufficiency± Proteinuria± Hypertension Bilateral sensorineural hearing loss Anterior lenticonus (lens protrusion) Diagnosis Molecular genetic testing Renal biopsy: longitudinal splitting of GBM (lamellated GBM) Goodpasture syndrome is a progressive glomerulonephritis accompanied by pulmonary disease (ie, alveolar hemorrhage); biopsy reveals linear IgG deposition in the GBM. This patient has no pulmonary symptoms, and sensorineural hearing loss is not associated with Goodpasture syndrome.

Hypertrophic cardiomyopathy in infants of diabetic mothers

Pathogenesis Maternal hyperglycemia → fetal hyperglycemia & hyperinsulinemia ↑ Glycogen & fat deposition in interventricular septum → dynamic LVOT obstruction Clinical findings Often asymptomatic May have respiratory distress and/or hypotension Systolic ejection murmur Imaging Chest x-ray: cardiomegaly Echocardiogram: ↑ thickness of interventricular septum, ↓ LV chamber size Treatment Intravenous fluids & beta blockers to increase LV blood volume Prognosis Spontaneous regression by age 1 Beta blockers reduce heart rate (negative chronotropic effect), which increases LV diastolic filling time, as well as end-diastolic volume (ie, preload). In addition, the negative inotropic effect of beta blockers decreases the pressure gradient between the LVOT and aorta, further reducing dynamic LVOT obstruction.

Hypertrophic cardiomyopathy in infants of diabetic mothers

Pathogenesis Maternal hyperglycemia → fetal hyperglycemia & hyperinsulinemia ↑ Glycogen & fat deposition in interventricular septum → dynamic LVOT obstruction Macrosomia and shoulder dystocia with clavicular fracture Clinical findings Often asymptomatic Poor cardiac output with hypotension and respiratory distress (eg, tachypnea, retractions) and/or hypotension Systolic ejection murmur Imaging Chest x-ray: cardiomegaly Echocardiogram: ↑ thickness of interventricular septum, ↓ LV chamber size Treatment Intravenous fluids & beta blockers to increase LV blood volume Prognosis Spontaneous regression by age 1

Neuroblastoma

Pathogenesis Neural crest origin Involves adrenal medulla, sympathetic chain Clinical features Median age <2 Abdominal mass Periorbital ecchymoses (orbital metastases) Spinal cord compression from epidural invasion ("dumbbell tumor") Opsoclonus-myoclonus syndrome Diagnostic findings Elevated catecholamine metabolites Small, round blue cells on histology N-myc gene amplification Differential Wilms tumor is the most common pediatric renal malignancy. Wilms tumor and neuroblastoma can present similarly with systemic symptoms and abdominal mass. However, periorbital bruising and opsoclonus are findings associated with neuroblastoma

Neuroblastoma

Pathogenesis Neural crest origin Involves adrenal medulla, sympathetic chain Clinical features Median age <2 Abdominal mass cervical paravertebral mass = ipsilateral Horner syndrome (ie, ptosis, miosis, anhidrosis). Although sweating is often difficult to appreciate in young children, absent facial flushing (ie, "harlequin" sign) can be observed in anhidrotic areas, as seen in this patient. Periorbital ecchymoses (orbital metastases) Spinal cord compression from epidural invasion ("dumbbell tumor") Opsoclonus-myoclonus syndrome Diagnostic findings Elevated catecholamine metabolites = vanillylmandelic acid and homovanillic acid Small, round blue cells on histology N-myc gene amplification Differential: Pheochromocytomas are catecholamine-secreting tumors that most commonly arise from the adrenal medulla and usually occur in adults. Typical findings include an abdominal mass, hypertension, and episodes of headache, diaphoresis, and tachycardia, which are not seen in this patient. Medulloblastomas and pilocytic astrocytomas are childhood brain tumors that commonly arise in the cerebellum. Presentation typically involves ataxia and dysmetria, not Horner syndrome.

Henoch-Schönlein purpura (IgA vasculitis)

Pathogenesis Perivenular leukocytoclastic (neutrophils & monocytes) vasculitis Deposition of IgA, C3 & fibrin in small vessels preceded by URI Clinical manifestations Classic findings*:Palpable purpura/petechiae on lower extremities Arthritis/arthralgia Abdominal pain, intussusception Renal disease (similar to IgA nephropathy) Other findings: scrotal pain & swelling Clinical diagnosis requires purpuric rash plus ≥2 additional classic findings. Laboratoryfindings Normal platelet count & coagulation studies Normal to ↑ creatinine Hematuria ± RBC casts &/or proteinuria Management Supportive care (hydration & NSAIDs) for most patients Hospitalization & systemic glucocorticoids for severe symptoms

Chronic granulomatous disease

Pathogenesis X-linked recessive mutation of NADPH oxidase Impaired respiratory burst & ↓ reactive oxygen species → inhibition of phagocytic intracellular killing Clinical features Recurrent infections with catalase-positive* bacteria & fungi Lungs, skin, liver, lymph node involvement Diffuse granulomas (eg, gastrointestinal, genitourinary) Diagnosis Measurement of neutrophil superoxide production:DHR flow cytometry (preferred)} NBT testing Treatment Prophylaxis: TMP-SMX, itraconazole, interferon gamma Active infection: culture-based, antimicrobial therapy Hematopoietic cell transplant is curative organisms that are catalse positive: *Staphylococcus aureus, Burkholderia (Pseudomonas) cepacia, Serratia marcescens, Nocardia, Aspergillus.

Anemia of prematurity

Pathogenesis ↑ Oxygenation at birth → ↓ EPO production Impaired transition from hepatic to renal EPO* Exacerbating factors in premature infants: ↓ RBC life span Frequent blood draws Iron depletion Clinical features Often asymptomatic Tachycardia, poor weight gain, apnea, hypoxia Laboratory findings Normocytic, normochromic anemia Inadequate reticulocyte response Management RBC transfusion if severe or symptomatic Minimize exacerbating factors (eg, iron supplementation, limit blood draws) After birth, increased oxygenation (ie, breathing, ductus closure) triggers reduced erythropoietin (EPO) production by the liver and kidney. Low levels of circulating EPO impair erythropoiesis in the bone marrow, which normally causes a mild, transient anemia that reaches a nadir of around 9-11 mg/dL at age 2-3 months in term infants (ie, physiologic anemia of infancy).

Neonatal complications of diabetes during pregnancy

Pathogenesis: Maternal hyperglycemia → fetal hyperglycemia & hyperinsulinemia ↑ Fetal fat & glycogen stores ↑ Fetal metabolic demand Associated risks: Prematurity Congenital anomalies (eg, caudal regression syndrome) Macrosomia & associated complications (eg, brachial plexus injury, clavicle fracture) Respiratory distress syndrome -> hyperinsulinemia suppress surfactant prod = NRDS (hypoxia, retraction, grunting, tachypnea) Hypertrophic cardiomyopathy (deposition in the IV septum, LVOT murmur at left sternal border) Laboratory findings: Hypoglycemia Polycythemia, low iron -> increased metabolic demand = fetal hypoxia -> erythropoeisis hypoMAGNESEMIA (b/c osmotic diuresis) -> suppress PTH -> hypoCALCEMIA Hyperbilirubinemia if baby is not hypoglycemia (>40) then check Ca level tx: give Mg, then Ca

Hirschsprung disease (congenital aganglionic megacolon) When does it present???

Pathology Failed neural crest cell migration to distal colon Symptoms Neonates: Delayed passage of meconium, bilious vomiting, ± enterocolitis CHILDREN/adolescents: Chronic constipation, failure to thrive Physical examination Distended abdomen Tight anal sphincter Absence of stool in rectal vault Forceful stool expulsion on rectal examination (SQUIRT SIGN) Diagnosis Rectal suction biopsy (gold standard) Anorectal manometry, contrast enema (adjuncts) Management Surgical resection of aganglionic segment

Common variable immunodeficiency

Pathophysiology Abnormal differentiation of B cells into plasma cells → decreased immunoglobulin production Clinical manifestations Symptom onset classically age 20-40, as early as puberty Recurrent respiratory infections (eg, pneumonia, sinusitis, otitis) Recurrent GI infections (eg, Salmonella, Campylobacter, Giardia) Chronic disease:Autoimmune (eg, RA, thyroid disease) Pulmonary (eg, bronchiectasis, fibrosis) GI (eg, chronic diarrhea, IBD-like conditions) Diagnosis ↓↓ IgG, ↓ IgA/IgM No response to vaccination Management Immunoglobulin replacement therapy

Pediatric obstructive sleep apnea

Pathophysiology Adenotonsillar hypertrophy (adults = obesity) Clinical manifestations Night symptoms: Loud snoring, pauses in breathing, gasping, Enuresis, parasomnias (eg, sleepwalking, sleep terrors) Day symptoms: Inappropriate naps or falling asleep during school, Irritability, inattention, learning problems, behavioral problems, Mouth breathing, nasal speech Complications Poor growth (ie, failure to thrive) Poor school performance Cardiopulmonary (eg, hypertension, structural heart changes) Management Tonsillectomy & adenoidectomy

Leukocyte adhesion deficiency

Pathophysiology Defect in CD18-containing integrins Impaired leukocyte adhesion & endothelial transmigration Clinical features Skin & mucosal infections (eg, cellulitis, periodontitis) without pus formation Impaired wound healing Delayed umbilical cord separation (age >3 weeks) - not ALWAYS seen in mild phenotypes Laboratory findings Leukocytosis & neutrophilia Differential: Adenosine deaminase deficiency is an autosomal recessive form of severe combined immunodeficiency characterized by deficient formation of mature B and T lymphocytes. As a result, patients have severe infections and failure to thrive, and laboratory studies show marked lymphopenia. Patients with complement deficiencies are at increased risk for disseminated infection with encapsulated bacteria (eg, Streptococcus pneumoniae, Haemophilus influenzae, Neisseria meningitidis). Cutaneous infections and neutrophilia are not seen. Defective B-lymphocyte maturation occurs in X-linked (Bruton) agammaglobulinemia, which presents in infant boys with recurrent sinopulmonary and gastrointestinal infections, as well as with low B-cell and immunoglobulin concentrations. Periodontitis in a girl is inconsistent with X-linked agammaglobulinemia. Chronic granulomatous disease (CGD) and Chédiak-Higashi syndrome (CHS) are characterized by defects in intracellular killing due to impaired respiratory burst and abnormal lysosomal trafficking, respectively. CGD presents in infant boys with infections from catalase-positive organisms (eg, S aureus, Serratia marcescens); Streptococcus pyogenes is catalase-negative and would be an unusual finding. CHS can cause skin infections; however, oculocutaneous albinism (eg, hypopigmented hair/skin, reflecting inadequate melanosome trafficking) and neutropenia (rather than neutrophilia) would be expected.

Bilirubin-induced neurologic dysfunction

Pathophysiology Excess levels of free, unconjugated bilirubin (exceed albumin to bind) cross the blood-brain barrier Deposition of bilirubin in basal ganglia & brainstem nuclei Neuronal damage, necrosis & atrophy Risk factors Prematurity Hemolysis (eg, G6PD deficiency) Birth trauma (eg, cephalohematoma) =localized red blood cell breakdown that caused unconjugated hyperbilirubinemia Exclusive breastfeeding with excessive weight loss Acute encephalopathy: ± Reversible (treatment: phototherapy, exchange transfusion) Clinical findings: Lethargy or inconsolability Hypotonia (early) or hypertonia (late) Apnea/respiratory failure Feeding difficulties, seizures Chronic encephalopathy Irreversible Clinical findings: Developmental delay Sensorineural hearing loss Choreoathetoid movements Upward gaze palsy Differential: Sydenham chorea of acute rheumatic fever from Streptococcus pyogenes infection typically presents at age 5-15, not in infancy. None of the other ARF findings (eg, fever, rash, arthritis) is present MECP2 gene mutation causes Rett syndrome, a disorder characterized by speech regression, abnormal gait, and loss of purposeful hand movements (eg, repetitive hand wringing) in girls at 6 months Physiologic chorea of infancy refers to benign, chorea-like movements in normal babies and resolves by age 8 months Huntington disease, caused by a trinucleotide on chrom 4p in adulthood with chorea (ie, involuntary, jerky movements) and progressive dementia.

Mastoiditis

Pathophysiology Infection of the mastoid air cells Complication of acute otitis media Most commonly due to Streptococcus pneumoniae Clinical findings Fever & otalgia Inflammation of mastoid Protrusion of the auricle Opacification of mastoid air cells on CT scan or MRI (GET IMAGE FIRST) !!! nocturnal headaches and morning vomiting, red flags for intracranial pathology !!! coexisting otitis media and mastoiditis suggest direct spread of bacterial infection and formation of a temporal brain abscess. Management Intravenous antibiotics Drainage of purulent material (eg, tympanostomy, mastoidectomy) Complications Extracranial extension (subperiosteal abscess, facial nerve palsy, hearing loss, labyrinthitis) Intracranial extension (brain abscess, meningitis)

Fanconi anemia

Pathophysiology Inherited DNA repair defect Bone marrow failure Clinical findings Short stature Hypo-/hyperpigmented macules Abnormal thumbs - polydactyly, flat thenar eminence Genitourinary malformations Laboratory findings Pancytopenia, macrocytic aplastic anemia Positive chromosomal breakage testing Treatment Hematopoietic stem cell transplant

Meconium ileus

Pathophysiology Inspissated stool causes obstruction at terminal ileum Strong association with CF Clinical features Failure to pass meconium within 24 hr of birth Abdominal distension No stool in rectal vault ± Bilious emesis Workup X-ray: dilated loops of small bowel, maybe obx at ileum with dilated small bowel before Contrast enema: microcolon Diagnostic evaluation for CF (eg, sweat test) Treatment Hyperosmolar enema ± Surgical management Differential: Along with CF, another important differential diagnosis in newborns with delayed passaged of meconium is Hirschsprung disease (HD). HD is associated with Down syndrome, which increases the risk of early-onset Alzheimer disease and hypothyroidism. However, in contrast to the thick, sticky stool in this patient, meconium consistency is normal in patients with HD, and the typical presentation includes increased rectal tone, squirt sign (expulsion of gas/stool on rectal examination), and obstruction at the rectosigmoid region with a dilated proximal colon. Patients with CF do not have increased risk of developing Alzheimer disease or hypothyroidism.

Myelomeningocele

Pathophysiology Most common neural tube defect Failure of neural tube closure Protrusion of meninges, cerebrospinal fluid & spinal cord through skin Increased risk with maternal folate deficiency Clinical features Membranous sac over lumbosacral region Severe neurologic deficits distal to lesion (eg, paralysis, bowel/bladder incontinence) Associated abnormalities Chiari II malformation = loss of CSF in myelomeningocele cause collapse of structures --> Inferior displacement of medulla & cerebellum through foramen magnum -> obx 4th ventricle -> Obstructive hydrocephalus (full fontanelle, enlarged head circumf)

Food protein-induced allergic proctocolitis

Pathophysiology Non-IgE-mediated reaction Eosinophilic inflammation of rectosigmoid colon Common triggers: cow's milk & soy proteins Risk factors Eczema Family history of food allergies Clinical features Age 1-4 weeks (up to 6 MONTHS) Well appearing Blood- &/or mucus-streaked stools (positive Hemoccult) Diagnosis & treatment Clinical diagnosis confirmed by symptom resolution after protein elimination Breastfed infants: restrict dairy (± soy) from maternal diet Formula-fed infants: switch to hydrolyzed formula Prognosis Tolerance of offending protein by age 1 Differential: Although antibiotics, a risk factor for Clostridioides (formerly Clostridium) difficile colitis, may be transmitted through breast milk, C difficile infection is rare in infants, who lack the intestinal receptors to the toxin until approximately age 2. Moreover, other infectious symptoms (eg, fever, profuse diarrhea) would be expected. Intussusception occurs in infants and toddlers age 6-36 months. It presents with lethargy, vomiting, and episodic, crampy pain/irritability as one bowel segment telescopes into another. Hematochezia is a late sign and indicates bowel ischemia. This infant's age and lack of irritability make intussusception unlikely. Lactose intolerance, typically diagnosed in older children and adults, is a nonimmunologic reaction to carbohydrate components of cow's milk due to lactase deficiency. Symptoms include crampy abdominal pain, bloating, flatulence, and nonbloody diarrhea. Malrotation with midgut volvulus can cause bloody stools due to intestinal ischemia. However, affected neonates are ill appearing with bilious emesis and poor appetite. Although Meckel diverticulum classically manifests in older children as painless hematochezia due to ectopic gastric tissue, bleeding in patients age <6 months is exceedingly rare and typically is associated with complications (eg, obstruction, perforation, intussusception). Ill appearance and irritability due to pain would be typical in these cases and are not seen here.

Transient hypogammaglobulinemia of infancy

Pathophysiology Prolonged (age >6 months) physiologic IgG nadir Clinical features May be asymptomatic Recurrent respiratory infections in infancy Atopy (eg, eczema, food allergies) Laboratory findings ↓ IgG (± ↓ IgA and/or IgM) Normal antibody response to vaccines Normal B and T lymphocytes Treatment Observation; self-resolution in early childhood However, in contrast to common variable immunodeficiency, patients with THI generate a normal antibody response to vaccines, as seen here

Persistent pulmonary hypertension of the newborn is characterized by abnormal persistence of elevated pulmonary vascular resistance, causing right-to-left shunting across a patent ductus arteriosus. Saturation differences? Difference b/w coarctation of aorta?

Patients have a low postductal saturation compared to the preductal saturation and normal distal pulses. Right-to-left shunting across the ductus arteriosus also occurs in conditions in which left ventricular output is obstructed such as coarctation of the aorta. However, these infants have diminished femoral pulses and often lower extremity pallor due to decreased distal blood flow. This patient has normal femoral pulses, making hypoplasia of the aortic arch unlikely.

croup v epiglotitis

Patients typically appear ill and have an acute onset of high fever, stridor, and significant respiratory distress. Patients with epiglottitis are often unvaccinated and may assume a tripod position (leaning forward with hands on knees and neck hyperextended) to open the upper airway. This patient's gradual symptom onset, low-grade fever, and mild distress are more consistent with croup.. It presents with fever, hoarseness, inspiratory stridor, and a harsh, barking, seal-like cough.

difference between aplastic crisis and aplastic anemia?

Patients with sickle cell disease can develop aplastic crises characterized by an acute drop in hemoglobin, a reticulocyte count <1%, and no splenomegaly. Parvovirus B19 is the most common cause. Aplastic anemia, in contrast to aplastic crisis, causes pancytopenia (eg, thrombocytopenia, anemia, leukopenia) due to bone marrow failure; the name "aplastic anemia" is a misnomer as manifestations are not limited to anemia. Aplastic anemia can be congenital (eg, Fanconi anemia) or acquired (eg, drug-induced, autoimmune). Splenic sequestration, a condition that occurs in patients with SCD whose spleens have not yet autoinfarcted, is caused by vasoocclusion and pooling of red blood cells in the spleen. Splenic sequestration can cause acute severe anemia; however, patients have an elevated reticulocyte count and a rapidly enlarging spleen.

typically presents with nocturnal perianal pruritus and can cause vulvar and perianal erythema

Pinworm infection. Diagnosis is confirmed by visualization of eggs and/or pinworms on the "tape test." Treatment is with albendazole or pyrantel pamoate. Scabies is a mite infection that presents with intensely pruritic papules usually involving the interdigital web spaces, axillae, wrists, and genitalia. This patient's localized perianal and vulvar erythema is more consistent with a pinworm infection.

Early meningococcal infection is often nonspecific (eg, fever, pharyngitis) but should be suspected in a patient with rapidly progressive illness, severe myalgias (eg, leg pain), and poor perfusion (eg, mottled skin, cold hands/feet). Dx test?

Positive cerebrospinal fluid culture obtained via lumbar puncture is diagnostic

Oligohydramnios from urinary obstruction can lead to Potter sequence, which is characterized by pulmonary hypoplasia, flat facies, and limb deformities. Most common cause of urinary tract obstruction in boys that cause this?

Posterior urethral valves are the most common cause of urinary tract obstruction in newborn boys. Feel suprapubic mass midline = distended bladder

Routine newborn care

Preventive Intramuscular vitamin K Erythromycin eye ointment Hepatitis B vaccine Screening Newborn screen (metabolic/genetic disorders) Hyperbilirubinemia Hearing screen Pre- & post-ductal pulse oximetry (congenital heart disease) Hypoglycemia (select populations)

primary v. secondary varicocele

Primary: Pathophysiology Compression of left renal vein between SMA and aorta Incompetent venous valves Clinical features "Bag of worms" mass Pubertal onset Left-sided Decompresses when supine Initial management Reassurance and observation Secondary: Pathophysiology Extrinsic compression (renal or retroperitoneal mass) of IVC - wilms tumor in children Venous thrombus Clinical features "Bag of worms" mass Prepubertal onset Right-sided Persists when supine Initial management Abdominal ultrasound - look for the mass Differential: Testicular cancer typically presents in patients age 15-35 with a painless, firm testicular mass. Initial management includes surgical orchiectomy; biopsy is avoided due to risk of tumor seeding

As the patent ductus arteriosus closes, ductal-dependent congenital heart disease presents with cyanosis if pulmonary blood flow is obstructed or hypotension if systemic blood flow is obstructed. Tx?

Prostaglandin E1 maintains the patency of the ductus arteriosus and is life-saving in infants with ductal-dependent congenital heart disease. Indomethacin is a nonsteroidal anti-inflammatory drug that inhibits prostaglandin formation and facilitates closure of the PDA. It can be administered in neonates with a large, isolated PDA (eg, continuous, machine-like murmur) that fails to close, because these patients are at increased risk of heart failure and pulmonary hypertension from left-to-right shunting.

Acute bacterial rhinosinusitis

RF: viral URI, allergic rhinits Clinical features Cough, nasal discharge Fever Face pain/headache Diagnostic criteria: (1 of 3) Persistent symptoms ≥10 days without improvement Severe onset (fever ≥39 C [102.2 F] + drainage) ≥3 days Worsening symptoms following initial improvement bacteria: nontypeable Haemophilus influenzae, Streptococcus pneumoniae, or Moraxella catarrhalis Treatment Amoxicillin ± clavulanate

RTA

RTA is caused by a defect in the ability of the renal tubules to reabsorb bicarbonate (type 2 RTA) or excrete hydrogen (type 1 RTA). Type 1 RTA (low H secretion, distal) is often a genetic disorder and is commonly associated with nephrolithiasis. Type 2 RTA (low bicarb reaborption, proximal) may be isolated but is more commonly a component of Fanconi syndrome (glucosuria, aminoaciduria, and phosphaturia are also present). Type 4 RTA (aldosterone resistanc) is caused by a defect in the sodium/potassium exchange in the distal tubule, which results in hyperkalemic, hyperchloremic metabolic acidosis. In children, obstructive uropathy and aldosterone insufficiency are common causes. sx: growth failure (due to poor cellular growth and division in acidic conditions). Screening laboratory results will show a low serum bicarbonate level and hyperchloremia, which lead to a normal anion gap metabolic acidosis. Evaluation of urine pH and urine electrolytes can help distinguish between the types of RTA. Given the markedly alkalotic urine in this patient, type 1 RTA is the most likely diagnosis. Treatment consists of oral sodium bicarbonate to normalize the serum bicarbonate levels.

Spontaneous pneumomediastinum

Risk factors Asthma exacerbation Respiratory infection Tall, thin, adolescent boy Clinical features Acute chest pain, shortness of breath, cough Subcutaneous emphysema = High intraalveolar pressure due to severe coughing paroxysms can cause air to leak from the chest wall into subcutaneous tissues Hamman sign (crunching sound over heart) Diagnosis Mediastinal gas on chest x-ray rule out a life-threatening pneumothorax that may require emergency needle thoracostom Treatment Rest, analgesics Avoid Valsalva maneuvers

acronym for depression

SIG E CAPS lack of sleep no interest guilt energy low concentration low appetite low psychomotor agitation suicide depressed mood Although starting middle school can be a significant stressor, the severity of symptoms and degree of impairment in this patient make MDD more likely than adjustment disorder. Adjustment disorder is not diagnosed when the criteria for another psychiatric disorder, such as MDD, are met.

seizures v syncope

Seizures are characterized by sudden loss of consciousness, loss of postural tone, and a postictal state with delayed return to baseline neurologic functioning. Tongue lacerations can occur with tonic-clonic movements. syncope is a transient LOC with loss of postural tone followed by immediate, spontaneous return to baseline neurologic functioning.

Humoral immunodeficiency syndromes Condition B cell count IgG IgA IgM IgE

Selective IgA deficiency B cell count Normal IgG ↓ IgA Normal IgM Normal IgE Normal Job syndrome(hyper-IgE syndrome) B cell count Normal IgGNormal IgANormal IgM Normal IgE ↑ CD40 ligand deficiency (hyper-IgM syndrome) B cell count Normal IgG↓ IgA↓ IgM↑ IgE ↓ Common variableimmunodeficiency B-cell count Normal IgG↓ IgA↓ IgM↓ IgE↓ X-linkedagammaglobulinemia B-cell count↓ IgG↓ IgA↓ IgM↓ IgE↓

Short stature, amenorrhea, and aortic coarctation are features of? What are they increased risk for?

Short stature, amenorrhea, and aortic coarctation are features of Turner syndrome. Patients are at increased risk of osteoporotic fracture due to estrogen deficiency from ovarian dysgenesis. Patients are at increased risk of osteoporotic fracture due to estrogen deficiency from ovarian dysgenesis. Estrogen also inhibits osteoclast-mediated bone resorption; therefore, patients with TS have increased bone resorption, decreased bone mineral density, and increased risk of osteoporotic fracture. Estrogen replacement therapy is given to girls with TS to promote normal sexual maturation and reduce the risk of osteoporotic fractures.

Trendelenburg sign is a nonspecific finding of gluteal muscle weakness marked by drooping of the contralateral pelvis. adolescents who also have chronic hip, knee, or groin pain; limited hip abduction and internal rotation; and/or proximal lower extremity muscle atrophy.

Slipped capital femoral epiphysis should be suspected Nerve conduction studies can evaluate for a superior gluteal nerve injury leading to muscle weakness and atrophy with a Trendelenburg gait. However, this condition typically occurs after gluteal injection or hip fracture/replacement, neither of which is seen here A tumor compressing distal spinal nerve roots can lead to gluteal muscle weakness and a Trendelenburg gait, warranting MRI of the lumbosacral spine. However, nocturnal, radiating back pain and sensory changes (eg, numbness, tingling) would be expected.

MCC of osteomyelitis (inflammation in MRI with fever)? tx?

Staphylococcus aureus and Salmonella are the most common causes of osteomyelitis in children with sickle cell disease. Therefore, empiric antibiotics should include antistaphylococcal (eg, clindamycin) and gram-negative (eg, ceftriaxone) coverage.

mcc of bacterial pneumo in CF?

Staphylococcus aureus is the most common cause of bacterial pneumonia in young children with cystic fibrosis, especially in those with coexisting influenza infection. For patients with severe pneumonia, frequent hospitalizations, or recurrent skin infections, intravenous vancomycin should be included for empiric therapy against methicillin-resistant S aureus oral abx inappropriate in children with severe pneumo. pseudomonas is less common in children, but MCC in adults

in CF, cause of pneumo in children? adults?

Staphylococcus aureus is the most common pathogen isolated in infants and young children with cystic fibrosis (CF). Pseudomonas aeruginosa is the most common cause of CF-related pneumonia in adults and contributes to life-threatening decline of pulmonary function.

gram-positive cocci in pairs and chains on culture. It can cause early-onset neonatal sepsis or late-onset disease in young infants. Late-onset infection most commonly presents at age 4-5 weeks with bacteremia, meningitis, and/or focal infection (eg, cellulitis-adenitis).

Streptococcus agalactiae (group B Streptococcus) (S aureus appears as gram-positive cocci in clusters)

Peritonsillar abscess

Sx: fever, pharyngeal pain, and earache Examination: trismus, muffled voice, and swelling of peritonsillar tissues with deviation of the uvula. Treatment: needle aspiration or incision and drainage plus antibiotic therapy. Differential: Uncomplicated tonsillitis is characterized by tonsillar erythema and exudates, often with tender anterior cervical nodes and palatal petechiae. However, trismus, pooling of saliva, and uvular deviation are more consistent with PTA.

genu varum

Symmetric genu varum, or bowed legs, is typically physiologic from birth and resolves by age 2. Management is reassurance and observation

Ataxia telangiectasia

T cell deficiency associated with a defect in DNA repair. immune dysfunction + progressive cerebellar degeneration and are at high risk for cancer.

Hyper-IgM syndrome

T cell lymphocytes that lack CD40 ligand cannot bind to the CD40 receptor on B cells. Without CD40 activation, B cells cannot switch the antibody isotype they produce (eg, from IgM to IgG or IgA)

allergic contact dermatitis is caused by?

T cell-mediated (delayed, type IV) hypersensitivity and presents with erythema, edema, and vesicles >12 hours after contact with the allergen (eg, poison ivy, nickel) NOT IgE (that is type 1)

compression of the esophagus, see deep impression on posterior esoph on barium esophagoscopy. may present with dysphagia, vomiting, or recurrent food impactions

Vascular rings encircle the trachea and/or esophagus. Compression of the trachea may present with stridor Eosinophilic esophagitis can cause dysphagia to solids, repeated food impactions and, potentially, normal esophagoscopy (although mucosa biopsy would show eosinophils). However, posterior esophageal compression is not seen. Primary achalasia is characterized by inflammatory degeneration of esophageal neurons, leading to impaired peristalsis and incomplete relaxation of the lower esophageal sphincter. It can cause regurgitation of undigested food and heartburn. However, dysphagia is typically to both solids and liquids, and esophagography shows esophageal dilation with a "bird-beak" appearance.

presence of gamma tetramers (hemoglobin Barts) on hemoglobin analysis is consistent with

alpha-thalassemia. Laboratory studies typically reveal a microcytic anemia, an elevated erythrocyte count, and target cells on peripheral smear When 3 genes are lost (α-/--), a condition known as hemoglobin H disease, the nonalpha chains accumulate into homotetramers; in children and adults, these homotetramers are composed of beta chains (hemoglobin H) whereas, in fetuses and infants, they are composed of gamma chains (hemoglobin Barts), as seen in this patient. Hemoglobin H disease usually presents in infancy with chronic hemolysis due to a shorter red blood cell (RBC) lifespan and increased splenic sequestration. Elevated erythrocyte count and reticulocytosis occur as the bone marrow attempts to replenish hemolyzed RBCs. However, RBCs are microcytic (mean corpuscular volume <80 µm3) and hypochromic because hemoglobin accounts for the majority of RBC volume. Characteristic findings on peripheral smear include abundant target cells as a result of the reduced RBC volume

Atopic dermatitis

also called ECZEMMA stupid classically presents with dry, pruritic, erythematous patches due to skin barrier dysfunction. In contrast to flexor surface distribution in older children and adults, affected areas in infants include the face, chest, and extensor surfaces of the extremities. diff Eczema herpeticum, a potentially life-threatening complication of atopic dermatitis, is caused by herpes simplex virus superinfection. Patients typically have fever, irritability, and painful vesicles, none of which are seen in this patient.

Head CT scan without contrast is indicated for minor head trauma in <2 age with high-risk features for intracranial injury which are? Observation for 4-6 hours may be an alternative option if mental status is normal and there are no signs of a basilar skull fracture.

altered mental status, loss of consciousness, severe mechanism of injury, vomiting or severe headache, signs of a basilar skull fracture (CSF rhinorrea)

Initial treatment of pediatric patients who have hypovolemic hypernatremia with signs of dehydration (eg, dry mucous membranes, tachycardia) is to restore circulatory volume and tissue perfusion by emergency fluid resuscitation with?

an isotonic solution (eg, 0.9% normal saline). hypotonic solutions should not be used in the emergency fluid rescucitation of pediatric patients with hypovolemic hypernatremia due to the risk of neurologic complications with rapid overcorrection should then be corrected gradually (<0.5 mEq/L/hr) to prevent neurologic complications (eg, cerebral edema) from excessive movement of water into brain cells.

Urinary tract infections typically improve within 48 hours of appropriate antibiotic therapy. In children with persistent symptoms (eg, fever), what to do?

antibiotics should be broadened, and renal and bladder ultrasonography should be obtained to evaluate for anatomic abnormalities or the development of a renal abscess. voiding cystourethrogram if persistent

Breath-holding spells

are characterized by brief apnea and color change (ie, cyanosis or pallor) associated with an emotional trigger and followed by loss of consciousness. Parents should be reassured that these spells are typically benign with no long-term consequences. Differential: Tetralogy of Fallot can present with cyanotic episodes (ie, tet spells) after crying. However, rapid and deep breathing, not breath-holding, occurs during a tet spell, and a harsh systolic ejection murmur due to right ventricular outflow tract obstruction would be expected. Patients with frequent (ie, multiples times a day) or prolonged (ie, >1 min) BHS or a family history of cardiac disease, syncope, or sudden death should undergo an ECG to evaluate for arrhythmias (eg, prolonged QT syndrome

Ewing sarcomas

are malignant tumors that occur most commonly in the pelvis and long bones diaphysis of white, adolescent boys. Mets early to lung, BM sx: Localized pain, worse at night and swelling w/ systemic findings imaging: characteristic "onion skinning" (ie, lamellated periosteal reaction = central lytic lesions w/ concentric layers of bone) and "moth-eaten" appearance on x-ray. tx: sx, chemo, radiation differential: Osteoid osteoma is a benign bone tumor typically found in adolescent boys. It is most commonly located in the proximal femur and causes pain at night that is responsive to nonsteroidal anti-inflammatories (eg, ibuprofen). A small, round lucency is seen on x-ray. Fibrosarcoma is a rare, malignant spindle cell neoplasm that typically presents with a painful mass in patients age >30. X-ray reveals an osteolytic lesion with well-defined or ragged, "moth-eaten" margins. Giant cell tumor of bone is a benign tumor typically located in the epiphyses of long bones. It presents in young adults with pain and swelling and is characterized by a lytic area with a "soap bubble" appearance on imaging due to bony trabeculae within the lesion. Multiple myeloma is a malignant plasma cell dyscrasia that generally presents in older adults and is extremely rare in patients age <40. Extensive, punched-out lytic lesions, severe osteopenia, and pathologic fractures are common x-ray findings. Unicameral bone cysts occur in children and young adults and are typically located at the proximal femur or humerus. A pathologic fracture is the most common presentation, and x-ray reveals a cystic lesion with well-defined margins.

Howell-Jolly bodies

are nuclear remnants within red blood cells typically removed by the spleen. Their presence strongly suggests asplenia or functional hyposplenism precipitation of ribosomal ribonucleic acid is seen in patients with lead poisoning. In contrast to the single, blue, peripherally-located inclusion characteristic of a Howell-Jolly body, basophilic stippling appears as multiple, scattered, blue granules within the RBC cytoplasm.

Patients with cystic fibrosis have bleed, epistaxis, injury. dx?

at risk for fat-soluble vitamin (ie, A, D, E, and K) deficiency due to fat malabsorption from pancreatic insufficiency. Vitamin K is an important cofactor in coagulation factor activation; deficiency causes easy bruising and mucosal bleeding.

Patients with Down syndrome are at increased risk of atlantoaxial instability -> sx? vs tethered syndrome in spina bifida?

atlantoaxial instability can present with upper motor neuron findings (hyperreflexia, +Babinski), urinary/fecal incontinence, gait changes, or weaknes Tethered cord syndrome can cause weakness, decreased sensation, urinary incontinence, and hyporeflexia. Because the spinal cord is affected below T12/L1, upper motor neuron findings are not seen. Tethered cord syndrome is commonly associated with spina bifida

Patients with Tourette syndrome have high rates of psychiatric comorbidity, with a significantly increased risk for (2)

attention-deficit hyperactivity disorder and/or obsessive-compulsive disorder.

Choroid plexus papilloma

benign intraventricular mass that causes increased production of cerebrospinal fluid, leading to ventriculomegaly and hydrocephalus. In infants, hydrocephalus presents with enlarging head circumference and signs of increased intracranial pressure.

Craniopharyngiomas

benign, slow-growing, calcified tumors within the suprasellar region. Tumor compression of the optic chiasm can result in bitemporal hemianopsia, and pituitary stalk compression can cause panhypopituitarism (eg, growth failure, pubertal delay)

Acute, atraumatic hip pain in children is typically caused by transient synovitis, which presents in well-appearing children who are often afebrile and able to ambulate. However, patients with features concerning for septic arthritis (eg, inability to ambulate, leukocytosis) require what imaging?

bilateral hip ultrasound, with or without arthrocentesis, to distinguish between the conditions: unilateral = septic arthritis, arthorcentesis or bilateral = tenosynovitis No CT, exposure

Acute lymphoblastic leukemia often presents with

bruising, petechiae, and bleeding due to impaired platelet production in the bone marrow. Other common findings are nontender lymphadenopathy and hepatosplenomegaly Acute lymphoblastic leukemia Epidemiology Most common childhood cancer Peak age: 2-5 years Clinical features Nonspecific systemic symptoms (eg, fever, weight loss) Leukemic cells overcrowd bone marrow Pallor/fatigue (anemia) Easy bruising/petechiae (thrombocytopenia) Bone pain Extramedullary spread Lymphadenopathy Hepatosplenomegaly Testicular enlargement Mediastinal mass (T cell lineage): airway compression &/or superior vena cava syndrome Leptomeningeal spread: neurologic symptoms (eg, cranial nerve deficits, meningismus) Evaluation & diagnosis Complete blood count* Bone marrow biopsy (>20% blasts is diagnostic) with flow cytometry Lumbar puncture to evaluate for CNS involvement

Acute iron poisoning

can occur after accidental ingestion of prenatal vitamins and presents with abdominal pain, hematemesis, vomit (black/green), diarrhea (melena/hematochezia), shock, and anion gap metabolic acidosis. Acidosis results from hydrogen ion production during iron absorption and increased lactic acid production in shock. Imaging may reveal small opacities in the stomach and intestines because some formulations of iron tablets are radiopaque. Deferoxamine is the primary therapy. Differential;: Salicylate (eg, aspirin) poisoning presents with nausea, vomiting, and a metabolic acidosis with respiratory compensation. However, tinnitus is a common early sign, and aspirin tablets are not visualized on x-ray

Pericardial effusion

can occur after cardiac surgery and typically presents with distant, "muffled" heart sounds and signs of decreased cardiac output (eg, tachycardia, tachypnea). An enlarged cardiac silhouette on chest x-ray is characteristic (seeing stomach bubble is normal)

Tetralogy of Fallot

can present with hypercyanotic "tet" spells due to right ventricular outflow tract (RVOT) obstruction (harsh, systolic ejection murmur over the mid to left upper sternal border ) and right-to-left shunting in the setting of exertion or agitation. Squatting increases afterload -> decrease R->L shunt across VSD and increases blood flow across the RVOT, which in turn improves cyanosis Isolated atrial septal defect is an acyanotic lesion that causes a wide and fixed splitting of S2 and a systolic ejection murmur due to increased blood flow across the pulmonic valve.

Phenylketonuria

caused by a deficiency of phenylalanine hydroxylase, which results in the buildup of phenylalanine and its neurotoxic metabolites. Clinical features include intellectual disability, fair complexion, eczema, and a musty or "mousy" body odor. Infants diagnosed early through newborn screening and treated with low-phenylalanine diets can expect normal health and development

Orbital compartment syndrome

causes eye pain and vision loss due to rapidly increased intraorbital pressure from trauma. Examination shows a tight orbit (eg, periorbital swelling, hard eyelid, proptosis) and an afferent pupillary defect. Management is immediate surgical decompression to prevent permanent vision loss

Membranous nephropathy

causes gradual-onset nephrotic syndrome (ie, edema, proteinuria, hypoalbuminemia) and most commonly occurs in adults as primary disease. However, the diagnosis in any patient should prompt evaluation for a secondary cause, such as hepatitis B infection, autoimmune disease (eg, systemic lupus erythematosus), and malignancy.

Niacin (vitamin B3) deficiency

causes pellagra, which is characterized by diarrhea, a photosensitive dermatitis, and neurologic symptoms ranging from impaired concentration to dementia. Severe cases can be fata 4Ds: diarrhea, dermatitis, dementia, and if severe, death

Chiari I malformation

characterized by inferior displacement of the cerebellar tonsils through the foramen magnum, and syringomyelia ( Chiari II malformation = myelomeningocele, includes herniation of the cerebellar tonsils and vermis as well as inferior displacement of medulla. Chiari III malformations are severe and involve herniation into an encephalocele.) frequently asymptomatic, presentation may occur in adolescence/adulthood with occipital headache exacerbated by activity and Valsalva maneuve

Pyromania

characterized by intentional and repeated fire setting with no obvious motive. Patients have a fascination with fire and deliberately start fires to reduce tension and feel pleasure or relief. differential: Oppositional defiant disorder is characterized by a pattern of angry or irritable mood and defiant behavior toward authority figures. Although this patient is more argumentative with his parents, this is typical of adolescence, and he has no pervasive pattern of defiance. Individuals with oppositional defiant disorder do not typically engage in fire setting. Antisocial personality disorder is diagnosed in individuals age ≥18. It involves a pattern of violation of basic societal rules and the rights of others and requires a history with some symptoms of conduct disorder before age 15. Fire setting can also be a symptom of conduct disorder. However, in conduct disorder, fire setting is done to cause damage and is not accompanied by a fascination with fire or the need to relieve tension. In addition, a diagnosis of conduct disorder requires a pervasive pattern of violating rules and the rights of others that includes additional problem behaviors (eg, aggression/cruelty toward people and animals, theft), which this patient does not exhibit. Mania, psychosis Impaired judgment (eg, neurocognitive disorder, substance intoxication)

Hypoplastic left heart syndrome (HLHS)

characterized by underdevelopment of the left side of the heart = small LV, atretic MV, ASD Initial management includes prostaglandin infusion to maintain patency of the ductus arteriosus. Staged palliative repair should occur in infancy, and transplantation may be indicated for heart failure that is refractory to medical therapy and surgical palliation. Although left ventricular hypertrophy can occur in this condition, isolated hypertrophy of the interventricular septum is not expected. In addition, although HLHS causes respiratory distress, CYANOSIS is always present

Parapneumonic effusions occur after bacterial pneumonias lead to pleural inflammation and exudation of fluid into the pleural space. imaging? tx?

chest x-ray confirms the presence of pleural fluid (eg, obscuring of costophrenic angle, layering fluid on lateral decubitus film). Small effusions in children without respiratory distress can be managed with oral antibiotics and close outpatient follow-up. Moderate or large effusions with resp distress/hypoxia require drainage, ultrasound, IV abx The absence of travel, upper lobe parenchymal disease, and weight loss makes tuberculosis much less likely than a primary bacterial pneumonia complicated by parapneumonic effusion.

pearly white mass on TM

choleastoma

Sydenham chorea is an autoimmune complication of group A Streptococcus infection caused by molecular mimicry, in which antistreptococcal antibodies cross-react with neuronal antigens in the basal ganglia. Neuropsychiatric manifestations include

chorea, milkmaid grip, hypotonia, emotional lability, and obsessive-compulsive behaviors

Celiac disease

chronic malabsorptive disorder caused by an immune-mediated hypersensitivity to gluten; patients with certain autoimmune diseases (eg, type 1 diabetes, autoimmune thyroiditis) are at particularly high risk, also down syndrome. Pediatric patients often have growth delay, nonspecific gastrointestinal symptoms (diarrhea, abdominal discomfort), and microcytic anemia (iron malabsorption). The diagnosis can be confirmed serologically with anti-tissue transglutaminase antibodies or by duodenal biopsy (villous blunt, intraepith lymphocytosis)

Cholesteatomas in children can either be congenital or acquired secondary to? sx?

chronic middle ear disease. sx: New-onset hearing loss or chronic ear DRAINAGE despite antibiotic therapy are typical presenting symptoms of cholesteatomas, and granulation tissue and skin debris may be seen within retraction pockets of the tympanic membrane on otoscopy. associ sx: vertigo, hearing loss, cranial nerve palsies, infection -> need ENT consult with CT Differential: Malignant otitis externa represents osteomyelitis of the external auditory canal and skull base. It typically develops in elderly patients with diabetes mellitus. It can cause discharge and hearing loss but is typically characterized by severe ear pain, prominent discharge, and external auditory canal erythema. Meniere disease is a condition associated with an accumulation of fluid in the inner ear that leads to hearing loss, vertigo, and tinnitus. The presence of ear drainage and the lack of vertigo make Meniere disease unlikely in this case. In addition, most cases of Meniere disease occur in adults. An osteoma is a benign, solitary area of bony overgrowth that can form in the outer ear and lead to hearing loss. Osteomas are more common in adults and typically involve the external ear (rather than the middle ear). The findings on this patient's tympanic membrane are more typical for cholesteatoma. Otosclerosis is a condition in which there is bony overgrowth of the stapes footplate that results in conductive hearing loss. Ear drainage would not be present.

Preterm infants should receive routine immunizations according to _________ age rather than age corrected for gestation. Live virus vaccines are withheld in immunocompromised patients, but mild intercurrent illness is not a contraindication to vaccination.

chronologic

Physiologic jaundice of the newborn

common, benign cause of indirect hyperbilirubinemia on days 2-4 of life. Mechanisms include increased bilirubin production, decreased bilirubin clearance, and increased enterohepatic recycling. At birth, fetal red blood cells (RBCs) are increased (hematocrit 50%-60%) with a shortened life span (90 days), resulting in high RBC turnover and increased bilirubin production. Hepatic bilirubin clearance is decreased because uridine diphosphogluconurate glucuronosyltransferase (UGT) activity does not reach adult levels until age 2 weeks. This hepatic enzyme conjugates bilirubin, making it soluble (ie, excretable). Eastern Asian newborns have decreased UGT compared to that of other ethnicities. Enterohepatic recycling is increased because the low bacterial load in the newborn gut results in slower conversion of bilirubin to urobilinogen for fecal excretion. Physiologic jaundice of the newborn is benign and resolves by age 1-2 weeks. Frequent feeding promotes gut colonization and fecal excretion. Phototherapy may be indicated for rapidly rising levels of bilirubin to prevent kernicterus.

in croup. patients with stridor at rest are treated with ? patient with no stridor at rest tx with?

corticosteroids and nebulized epinephrine. humidified air ± corticosteroids

microcephaly, protruding metopic suture, hypotonia, short stature, hypertelorism, wide and flat nasal bridge, and intellectual disability, cat-like cry

cri-du-chat (5p deletion) syndrome

Transposition of the great vessels is a congenital cyanotic heart defect that typically presents within the first 24 hours of life with

cyanosis and a single loud S2, egss on string mediastinum on XR tricuspid atresia = single S2, VSD murmur, decrease pulm BF truncus arteriosus = single S2, systolic ejection murmur, increase pulm BF

Benefits of breastfeed for mom. CI?

decrease risk of ovarian and breast cancer improve bond with child, child spacing, lose weight, involute uterus and stop postpartum bleed CI: active/ untreated TB, can tx after 2 weeks of tx maternal HIV (in dev countries, use formula) herpetic lesions on breast varicella 5 days prior or 2 days within delivery chemo/radiation active drugs, alcohol

Because helper T cells play a role in B-cell activation, patients with T-cell deficiency (eg, severe combined immunodeficiency) may have

decreased antibody production in addition to impaired cell-mediated immunity. Unlike in CVID, severe bacterial, viral, and fungal infections would begin in early infancy.

Common variable immunodeficiency is characterized by

decreased immunoglobulin production due to impaired differentiation of B cells into plasma cells. Patients typically develop recurrent sinopulmonary infections after puberty and have low IgG plus low IgA and/or IgM, as well as decreased antibody response to vaccines XLA present more similarly except mostly in boys, infancy, and other infections besides sinopulm

Adolescent idiopathic scoliosis

defined as lateral curvature of the spine without a known etiology in a child age ≥10. dx test: Forward bend test reveals an asymmetric thoracic or lumbar prominence. The first step in evaluation is x-ray of the spine to determine the degree of curvature and assess skeletal maturity. 10-30 = every 6 mo monitor >30 = brace 40-50 = sx

Functional constipation is common in toddlers due to transition to solid food and cow's milk, toilet training, and school entry. Initial treatment is with

dietary changes and laxatives (eg, polyethylene glycol) to soften stools. constipation persists despite standard therapy, evaluation with anorectal manometry can be considered fir hirschpring

treat UTI in neonate?

empiric abx b/c risk scarring and HTN cefixime

The most common causes of viral meningitis?

enteroviruses, such as group B coxsackievirus. Cerebrospinal fluid analysis shows mild pleocytosis with lymphocytic predominance, normal to slightly elevated protein, and normal glucose. Cryptococcal meningitis presents in immunosuppressed patients with a mildly elevated white blood cell count with lymphocyte predominance; however, protein is high and glucose is low. In addition, the presentation tends to be subacute (2-4 weeks) rather than acute.

Empyema occurs after bacterial pneumonia leads to bacterial colonization of the pleural fluid. Pleural fluid shows?

exudative, pH <7.2, a low glucose level, neutrophil-predominant leukocyte counts >50,000/mm3, and a significantly elevated lactate dehydrogenase level fever, shortness of breath, and evidence of pneumonia (ie, right lower lung opacity) and pleural effusion on chest x-ray has a parapneumonic effusion. Parapneumonic effusions are exudative effusions that can develop as a complication of pneumonia due to inflammation and infection from an adjacent lung infection, resulting in accumulation of fluid in the pleural space.

Marfan syndrome is an autosomal dominant disorder that results from mutations of the ? sx?

fibrillin-1 gene Affected patients have tall stature; long, thin extremities; arachnodactyly; joint hypermobility; upward lens dislocation; and aortic root dilation. Ehlers-Danlos syndrome is a collagen disorder characterized by scoliosis, joint laxity, and aortic dilation. Patients with this disorder do not have the disproportionately tall stature, lens dislocation, or pectus carinatum seen in Marfan syndrome Homocystinuria is an autosomal recessive disorder that results from deficiency of cystathionine synthase, an enzyme involved in the metabolism of methionine. These patients share many features of Marfan syndrome (eg, pectus deformity, tall stature, arachnodactyly). However, they usually have a fair complexion, thromboembolic events, and intellectual disability. The other main differentiating feature is lens dislocation in homocystinuria that is downward rather than upward.

Sickle cell disease normally causes normocytic, hemolytic anemia with compensatory reticulocytosis. Chronic hemolysis without adequate folic acid intake increases the risk for

folate deficiency, a macrocytic anemia with an inappropriately low reticulocyte count. Differential In patients with SCD, aplastic crisis typically occurs due to parvovirus B19 infection. Erythropoiesis is halted, resulting in severe, acute (<2 weeks) normocytic anemia with decreased reticulocyte count. This patient's macrocytosis and prolonged 3-week course make folate deficiency more likely. Splenic sequestration (due to splenic vaso-occlusion and red blood cell pooling) presents in patients with SCD as a rapidly enlarging spleen, abrupt anemia, and increased reticulocyte count. Splenic sequestration typically occurs in young children prior to autoinfarction of the spleen.

Sudden-onset respiratory distress with unilateral hyperinflation and mediastinal shift on x-ray are concerning for

foreign body aspiration. Rigid bronchoscopy can identify and remove the aspirated object. cant see object on xray b/c radiolucent

Breastfed infants have a decreased risk of developing otitis media; respiratory, gastrointestinal, and urinary tract infections; and necrotizing enterocolitis. Breastfed infants also have lower rates of type I diabetes mellitus and childhood cancer. Improve GI function. Increased immunity. The only absolute infant contraindication to breastfeeding is

galactosemia.

Breastfeeding failure jaundice

generally benign condition in the first week of life, presents with weight loss and unconjugated hyperbilirubinemia (not vomit)

Cerebral palsy is a nonprogressive motor dysfunction; prematurity is the leading risk factor. The most common findings are

gross motor delay in infancy and spasticity (eg, hypertonia, hyperreflexia)

Brain abscess v. meningitis in children frequently presents with

headache, fever, focal neurologic deficits, and seizure. Cyanotic congenital heart disease is a risk factor for brain abscess due to hematogenous spread of bacteria bypass pulm circl/clearance Bacterial meningitis can present with acute fever, headache, and vomiting. However, meningeal signs (eg, nuchal rigidity) are often present on examination. This patient's focal right leg weakness and hyperreflexia make brain abscess more likely.

Patients with structural airway disease, especially cystic fibrosis and asthma, are susceptible to allergic bronchopulmonary aspergillosis (ABPA). Allergic sensitization to Aspergillus spores is signified by ?

high levels of circulating IgE. ABPA must be suspected when lung function declines without explanation, or persistent lower respiratory infection symptoms occur despite adequate antibiotic therapy. Acute hypersensitivity pneumonitis can cause fever, malaise, and pneumonia-like airspace infiltrates unresponsive to antibiotic therapy. Pneumonitis typically improves spontaneously in the hospital (patient removed from inciting exposure). Eosinophilia and high IgE are not expected.

how does measles spread? when is vaccine given?

highly contagious infection is transmitted by the airborne route. give 2 dose MMR = age 1+4, can give give ppx for travel 6-11mo

Large ventricular septal defects cause growth failure, easy fatigability, and heart failure. Murmur?

holosystolic murmur that is loudest at the left lower sternal border and an apical diastolic rumble due to increased blood flow across the mitral valve

Pyloric stenosis presents at age 3-5 weeks with nonbilious, projectile vomiting after each feed. Protracted vomiting produces a

hypochloremic, hypokalemic metabolic alkalosis. Hypovolemia also activates the renin-angiotensin-aldosterone system and potassium is excreted by the kidneys in response to aldosterone

Primary amenorrhea is the absence of menarche In patients with a uterus, the best next step is an FSH level test, which distinguishes between central (low/normal FSH) and peripheral (high FSH) causes of amenorrhea

in girls age ≥13 with no secondary sexual characteristics (or girls age ≥15 with secondary sexual characteristics [eg, axillary/pubic hair]) 1- pelvic ultrasound (uterus present?) not present = Mullerian agenesis (XX), AIS (XY) present -> check FSH 2- uterus present -> do FSH low FSH = central = hypothalamus and anterior pituitary decrease production -> hypothyroidism (increase TSH, prolactin), prolactinoma (normal TSH, increase prolactin), normal (functional hypothalamic amenorrhea) high FSH = peripheral = lack of ovarian estrogen and inhibin production -> karyotype = XO (turner) or XX (primary ovarian insuff) normal FSH = imperforate hymen/anatomic anomalies

Bacterial meningitis

in infants can present nonspecifically with fever, lethargy, inconsolableness, and poor feeding. Physical examination may reveal a bulging fontanelle. In hemodynamically stable infants, lumbar puncture should be performed prior to antibiotic therapy to identify the pathogen and guide treatment. anterior fontanelle serves as a pop-off valve for reducing intracranial pressure, infants with open fontanelles are not at risk for herniation, so CT scan of the head is not required before LP

Severe aortic coarctation

increases left ventricular afterload, can present in the neonatal period with congestive heart failure (eg, respiratory distress, poor feeding, poor distal perfusion) and cardiogenic shock upon closure of the ductus arteriosus (first few days of life, conexn of pulm aa to aorta)

hypotonia, upward and slanted palpebral fissures, epicanthal folds, Brushfield spots, cardiac malformations, and intestinal atresia.

infants with Down syndrome

Laryngomalacia presents in

infants with inspiratory stridor that worsens in the supine position and improves in the prone position. Laryngoscopy shows collapse of the supraglottic structures during inspiration. dx test: visualization of the larynx, typically by flexible fiberoptic laryngoscopy. Findings include an omega-shaped (Ω) epiglottis and collapse of the supraglottic structures during inspiration tx: Concurrent gastroesophageal reflux should be treated. Laryngomalacia usually resolves spontaneously by age 18 months.

Splenic rupture presents with acute abdominal pain, anemia, and shock due to intraperitoneal hemorrhage (free fluid in abdomen on u/s). Atraumatic rupture is a rare, potentially fatal complication of ?

infectious mononucleosis, a viral infection associated with splenomegaly. also due to malignancy differential Sickle cell disease and its variants (eg, hemoglobin SC disease) are associated with splenic sequestration crisis. Symptoms include anemia, severe abdominal pain, and splenomegaly. However, anemia is due to pooled red blood cells in the spleen, not intraperitoneal hemorrhage as seen in this patient with abdominal free fluid. In addition, this diagnosis is unlikely in a previously healthy adolescent.

Patients with intravascular volume depletion (eg, vomiting, diarrhea) normally have increased renal prostaglandin production to dilate the afferent arteriole and maintain the glomerular filtration rate. Nonsteroidal anti-inflammatory drugs affect this how?

inhibit COX = stop prostaglandin synthesis -> renal afferent arterial vasoconstriction and subsequent reduced glomerular filtration rate, renal ischemia, and acute kidney injury -> prerenal azotemia with BUN/Cr of >20:1. Urine sediment = bland without protein, hematuria, or casts. Tx: stop offending agent and volume resuscitation

hydrocephalus imaging in baby?

initial evaluation is neuroimaging, including ultrasound of the head in an infant with an open fontanelle or MRI of the brain in this patient with a closed fontanell

tx clubfoot deformity?

initial treatment is stretching with serial molding cast

Tracheoesophageal fistula with esophageal atresia presents shortly after birth with copious oral secretions and choking, coughing, and/or vomiting with feeding. Diagnosis can be confirmed by:

inserting a nasogastric tube, which encounters resistance at the proximal esophageal pouch.

Posterior oropharyngeal injuries (penetrating trauma, object in mouth like toothbrush, or neck manipulation in sports like yoga) can result in?

internal carotid artery dissection or thrombus formation, which can present with hemiplegia, facial droop, and aphasia w/ thunderclap HA dx: CT or MR angio differential: Cerebral thromboses Antithrombin III deficiency -> spontaneous venous thromboembolism, particularly of the femoral and mesenteric veins; cerebral thromboses are less common. Certain cardiac defects (eg, atrial septal defect) w/ R to L shunt to cuase paradoxical emboli AV malformation = can ruputure without trauma = intracranial hemorrhage (HA, N/V, AMS) Todd paralysis = transient hemiplegia after a seizure right-to-left shunting of venous emboli into the cerebral Hemiplegic migraines are most common in adolescents and present with headache, visual aura, and a self-resolving hemiplegia Risk of retropharyngeal abscess that develop days after trauma w/ fever and severe neck pain Homocystinuria presents with lens dislocation, intellectual disability, marfanoid features, and an increased risk of arterial and venous thrombi.

Newborns who do not receive intramuscular vitamin K are at risk of vitamin K deficiency bleeding, which presents with easy bruising or bleeding, including ... (head)

intracranial hemorrhage (ICH). ICH can cause obstructive hydrocephalus, leading to a bulging fontanelle, upward gaze impairment, and signs of increased intracranial pressure (eg, irritability, vomiting, bradycardia, hypertension). Trisomy 13 can be associated with hydrocephalus but also with a constellation of other anomalies, including craniofacial abnormalities (eg, ear deformity, microphthalmia, cleft/lip palate, cutis aplasia, ) and renal and cardiac defects (eg, ventricular septal defect), umblical hernia, omphalocele, polydactyly none of which is seen here.

Hemorrhagic stroke presents with sudden headache, focal neurologic deficits, and altered mental status. Risk factors in children include vascular malformations (eg, arteriovenous malformation [AVM] in hereditary hemorrhagic telangiectasias) . Head CT scan of a ruptured AVM typically shows an

intraparenchymal bleed (ie, hyperdense fluid collection with irregular margins). A middle cerebral artery ischemic stroke appears as hypoattenuation and edema of the corresponding cerebral cortex. Although symptoms can include sudden-onset focal neurologic deficits, seizure, and headache, this patient's rapidly declining mental status is concerning for increasing intracranial pressure from hemorrhage.

Preterm newborns are at increased risk of developing ?

intraventricular hemorrhage (IVH) due to the presence of the germinal matrix, a fragile, highly vascularized area in the brain. Because IVH can be asymptomatic, all preterm neonates born at <32 weeks gestation require screening head ultrasound. germinal matrix gives rise to neurons and glial cells during fetal development BUT lack supportive structures and thin-walled capillaries prone to rupture, particularly with changes in cerebral perfusion (eg, hypoxia). Risk of IVH inversely correlates with gestational age -> neonates born at <32 weeks gestation are at highest risk because the germinal matrix involutes by week 32. IVH typically occurs in the first 3-4 days of life; symptoms may include a bulging fontanel, anemia, apnea, and seizures. However, up to 50% of IVH cases are asymptomatic. Therefore, all preterm neonates born at <32 weeks gestation should undergo screening head ultrasound at age 1-2 weeks. Ultrasound is ideal because it does not use radiation and is highly sensitive for detecting blood (seen as echogenicity) in the germinal matrix and/or ventricles.

Atopic dermatitis often has infectious complications (eg, impetigo) that should be considered when standard therapy (eg, topical corticosteroids) for a flare is ineffective. Impetigo classically presents with golden crusts, weeping, or purulence, and treatment?

involves topical mupirocin or oral antibiotics Pimecrolimus, a topical calcineurin inhibitor, is second-line therapy for atopic dermatitis and should be considered for flares refractory to topical corticosteroids and without evidence of infection. For severe atopic dermatitis flares, a short course of oral prednisone can be considered but is rarely indicated, particularly in young children, due to systemic side effects (eg, growth suppression, weight gain)

Riboflavin (vitamin B2) deficiency

is a complication of malabsorptive bowel disease and can lead to cheilosis, glossitis, and seborrheic dermatitis. A photosensitive rash does not occur in riboflavin deficienc

Eczema herpeticum

is a potentially fatal cutaneous herpes simplex virus infection associated with atopic dermatitis. Classic presentation includes systemic symptoms (eg, fever, lymphadenopathy) and painful vesicles with "punched-out" erosions and hemorrhagic crusts. Primary varicella zoster infection (ie, chickenpox) is characterized by a prodrome (eg, fever, sore throat, fatigue) followed by a diffuse pruritic rash that presents in various stages (eg, macules, papules, vesicles, pustules). This patient's localized and uniformly vesicular rash makes this diagnosis unlikely.

psychogenic pseudosyncope

is a type of conversion disorder characterized by an apparent loss of consciousness without impaired cerebral perfusion. Prolonged duration of unconsciousness, absence of objective physical findings, and high frequency of episodes are common. Vasovagal syncope causes LOC, often preceded by a prodrome (eg, nausea). Episodes are typically brief (eg, <2 min), and patients do not describe events that occurred during unconsciousness (eg, "I felt my head throbbing after it hit the floor"). Cataplexy, an emotionally triggered, sudden loss of muscle control, can mimic syncope; however, it typically occurs in patients with narcolepsy, who usually have other symptoms such as excessive daytime sleepiness. Cataplexic episodes are typically brief (eg, <2 min) versus prolonged (eg, ~20 min).

Acute, unilateral cervical lymphadenitis

is an infection in children age <5 characterized by an enlarged, markedly tender, warm, erythematous cervical node. Empiric antibiotic therapy (eg, clindamycin) should target the most common bacteria, including Staphylococcus aureus, Streptococcus pyogenes, and anaerobes. Supportive care and observation for progression can be considered for acute, unilateral cervical lymphadenitis in an afebrile patient with minimal tenderness or node enlargement.

Cystinuria

is an inherited disease causing recurrent renal stone formation. A personal history of recurrent kidney stones from childhood and a positive family history for nephrolithiasis should raise suspicion for the diagnosis. Urinalysis shows typical hexagonal crystals. The urinary cyanide-nitroprusside test is used as a qualitative screening procedure.

Polycythemia

is defined as a hematocrit level >65% in term neonates. Risk factors include excessive transfusion, intrauterine hypoxia (preE), and maternal diabetes. High blood viscosity limits organ perfusion and can cause respiratory distress, hypoglycemia/calcemia (increase cell uptake), and poor feeding. Treatment of polycythemia is hydration by oral feeds or glucose-containing parenteral fluids.

isolated speech delay MCC? normal age to be intelligible

isolated speech delay is characterized by problems with: articulation (eg, mispronunciation) fluency (eg, stuttering) vocal quality (eg, abnormal volume or pitch) often associated with hearing loss. The first step in management is a hearing test. Because speech should be 100% intelligible by age 4, this patient has speech delay consistent with an articulation disorder.

Prader-Willi syndrome (PWS)

main features: hypotonia hyperphagia, and obesity short hypogonadism intellectual disability facial dysmorphia: almond eyes, upslanting eyes, narrow head, downturn mouth why: Patients with PWS inherit both copies of a section of chromosome 15 from their mother. The deletion of the paternal copy of chromosome 15q11-q13. maternal uniparental disomy Patients are at risk for sleep apnea, type 2 diabetes mellitus, and gastric rupture.

Biliary cysts : sx? tx?

may be asymptomatic or present with abdominal pain, a right upper quadrant mass, and/or jaundice. All patients should undergo cyst resection to decrease the risk for malignancy (eg, cholangiocarcinoma, gallbladder cancer, pancreatic cancer). roux-en-Y hepaticojejunostomy is usually performed at the time of cystectomy to create a conduit that facilitates the flow of bile small risk for developing cancer in the remaining bile ducts after surgery, and serial laboratory testing with or without imaging is usually recommended postoperatively.

Edwards syndrome (trisomy 18)

microcephaly, prominent occiput, fetal growth restriction, and micrognathia, as well as closed fists with overlapping digits and rocker-bottom feet

Excessive cow's milk consumption (>24 oz/day) commonly causes ?

microcytic, iron deficiency anemia with a low erythrocyte count and elevated red blood cell distribution width. Total iron-binding capacity (TIBC) directly measures the iron bound by transferrin and indirectly measures transferrin levels. Anemia of chronic disease has a low TIBC and normocytic or microcytic anemia. In IDA, upregulated transferrin production and lower serum iron result in increased TIBC.

Miliary tuberculosis is caused by lymphohematogenous dissemination of Mycobacterium tuberculosis from the lungs to other organs, resulting in ? risk factor: grandma coughing differential with listeria?

micronodular lesions in the lungs, liver, and spleen. It is most common among infants and immunocompromised hosts with poor T-cell function and is often associated with false-negative tuberculosis test results. differential? Granulomatosis infantiseptica is a rare, often fatal form of infection in which disseminated abscesses or granulomas are present at birth. Manifestations develop relatively acutely (eg, days). This patient's age and 2-week symptom course make Listeria monocytogenes infection unlikely

Laryngomalacia

most common cause of stridor in infants and is due to collapse of the supraglottic tissues during inspiration. Stridor increases with exertion (eg, crying, feeding) and improves with prone positioning. foreign body in the larynx or trachea could cause stridor but would likely also present with life-threatening acute respiratory distress. A foreign body in the lower airways would not characteristically present with stridor but could present with recurrent pneumonias that do not resolve radiographically. Bilateral choanal atresia, or congenital blockage of the posterior nasal aperture, presents shortly after birth with cyclic cyanosis that worsens when newborns cannot breathe through the mouth (eg, during feeding) and improves when they do (eg, while crying). Unilateral choanal atresia commonly presents during childhood as persistent, unilateral nasal obstruction and discharge.

Metatarsus adductus (MA) Congenital clubfoot

most common congenital foot deformity, is characterized by medial deviation of the forefoot with a normal neutral position of the hindfoot. sx: bilateral and occurs most frequently in first-born infants, likely due to the crowded positioning in a smaller, primigravid uterus tx: reassurance rigid, upward deviation and plantar flexion tx: serial manipulation + casting, sx if its not working

Wilms tumor (nephroblastoma)

most common renal malignancy in children age 2-5. It typically presents with an asymptomatic unilateral abdominal mass. BUT HTN if tumor cells secrete renin or compress vasculature Differential: Neuroblastoma is another common malignant abdominal mass. However, it typically presents in children age <2. In addition, the mass arises from neural crest cells (eg, adrenal glands), not from the kidney (as in this patient). Finally, although hypertension can occur with neuroblastoma, it is less common than with Wilms tumor. Pheochromocytoma is a catecholamine-secreting tumor that can cause episodic headache, tachycardia, sweating, and/or hypertension. The mass arises from the adrenal glands, rather than the kidney. Renal cell carcinoma is a renal malignancy that presents in adolescents and adults with flank pain, hematuria, and a mass. This patient's young age makes Wilms tumor much more likely.

Hydroxyurea, which works by increasing fetal hemoglobin levels, is indicated in patients with sickle cell disease who have frequent vaso-occlusive crises. It is a relatively safe therapy with a dose-limiting side effect of?

myelosuppression (neutropenia, anemia, thrombocytopenia).

Howell-Jolly bodies

nuclear remnants of red blood cells that are usually removed by a functional spleen. Due to functional asplenia in sickle cell patients, Howell-Jolly bodies are expected findings on peripheral smear.

Newborn hydroceles typically present with painless scrotal swelling that transilluminates on examination. Management includes

observation and reassurance, as most cases resolve spontaneously by age 1 year.

The oligoarticular form of juvenile idiopathic arthritis (JIA), the most common subtype, is characterized by arthritis involving ≤4 joints (swelling, minimal pain). Patients are classically girls age <5. Regular ophthalmologic screening is indicated because

oligoarticular JIA that can cause irreversible vision loss if untreated. laboratory findings: leukocyte count, hemoglobin, erythrocyte sedimentation rate normal Tx: nonsteroidal anti-inflammatory drugs, intraarticular glucocorticoids, and disease-modifying antirheumatic drugs.

When caring for an unemancipated minor, informed consent from ____ parent or guardian is considered legally sufficient to justify proceeding with therapy. Physicians should also provide care in urgent situations without waiting for parental consent.

one parent

Slipped capital femoral epiphysis

pahtophys: characterized by proximal femoral displacement relative to the femoral head along the growth plate. RF: Most commonly seen in obese, adolescent (age 10-14) boys. Patients with hypothyroidism are at increased risk due to increased ossification of the growth plate. Treatment: surgical stabilization of the physis to prevent further slippage (Closed reduction is not typically recommended because it can cause damage to the tenuous blood supply of the femoral head and lead to avascular necrosis,)

Newborns of mothers with hepatitis B virus (HBV) infection should receive

passive immunization with hepatitis B immune globulin and active immunization with HBV vaccine within 12 hours of birth.

Spondylolisthesis

pathophys: anterior slippage of a vertebral body due to bilateral defects of the pars interarticularis (spondylolysis). Classic presentation is an adolescent with low back pain exacerbated by lumbar extension. RF: adolescent (age 10-19) growth spurts due to increased physiologic lumbar lordosis (exposing L5 vertebra) and decreased bone mineralization. Athletes with repetitive back extension and rotation (eg, gymnasts, divers) are at greatest risk Sx: impinge on the spinal cord and cause radiculopathy (eg, radiating pain, numbness, weakness) palpable step-off at the area of vertebral displacement Tx: conservative management (eg, limited activity, physical therapy, analgesics) Persistent pain, progressive vertebral displacement, or neurologic abnormalities (eg, weakness, incontinence) require surgical evaluation.

Apnea of prematurity

pathophys: caused by immature central respiratory centers and presents with respiratory pauses (no breathing >20 sec), often with bradycardia and desaturation -> can cause insults to watershed areas of brain/cerebral palsy Treatment involves noninvasive ventilation and caffeine.

Vitamin K-deficient bleeding

pathophys: classically presents with bleeding in newborns (day 2-7 of life) who did not receive intramuscular vitamin K, which is essential in the enzymatic carboxylation and activation of coagulation factors II (prothrombin), VII, IX, and X Ss: easy bruising, mucosal bleeding, gastrointestinal bleeding, and/or intracranial hemorrhage Labs prolonged PT with or without prolonged PTT

Afibrinogenemia

pathophys: rare, autosomal recessive bleeding disorder characterized by absent fibrinogen production. sx: Severe bleeding classically develops at the site of the umbilical cord after birth. Labs: PT and PTT, thrombin time is prolonged.

Rett syndrome is characterized by a

period of normal development followed by regression of speech, loss of purposeful hand use, stereotypical movements, and gait disturbance. Other features include early deceleration in head growth (ie, microcephaly), breathing abnormalities, autistic behaviors, and seizures.

Language disorder

persistent difficulties in the acquisition and use of language due to deficits in comprehension and/or production. Typical signs include limited vocabulary, sentence structure and functional use of language. As the demands of reading and writing increase, this patient will be at risk for a comorbid learning disorder. It requires the use of standardized achievement testing. Childhood-onset fluency disorder, also known as stuttering, is an impairment in the fluency of speech production. Speech sound disorder is an impairment in speech articulation.

Refeeding syndrome

potentially fatal complication of nutritional rehabilitation in anorexia nervosa. Carbohydrate intake stimulates insulin activity, which in turn promotes cellular uptake of phosphorus, potassium, and magnesium, leading to electrolyte deficiency. Cardiac manifestations include (low K and Mg) arrhythmias and congestive heart failure. Other common complications because low phos (no ATP) involve the muscular (eg, weakness, rhabdomyolysis), gastrointestinal (eg, diarrhea, elevated transaminases), and neurologic (eg, tremor, seizure) systems.

Osgood-Schlatter disease

present: knee pain caused by overuse in young adolescents. worsens with activities involving repetitive running, jumping, or kneeling (eg, soccer, basketball, gymnastics). Pain can be reproduced by squatting or extending the knee against resistance, as seen in this patient. Pain improves with rest and is more often unilateral than bilateral. Examination typically reveals prominence and tenderness over the tibial tubercle. why: quadriceps muscles pull on the insertion site of the patellar tendon. Pain occurs at this site, which is located on the apophysis of the tibial tubercle. This traction apophysitis may lead to elevation and chronic avulsion of the tibial tubercle. differential: prepatellar bursitis = direct anterior knee injury (wrestling), pain and swelling on patella Patellar tendinitis = overuse injury due to repetitive jumping (eg, basketball, volleyball). anterior knee pain that worsens with activity. Unlike Osgood-Schlatter disease (in which pain occurs over the tibial tuberosity), in patellar tendinitis, point tenderness is present at the inferior pole of the patella. Patellofemoral pain can be an overuse injury presenting as progressive knee pain in the setting of running and squatting. Pain is usually localized to the patella and associated with a sensation of instability or "buckling" at the knee.

polyarticular juvenile idiopathic arthritis (JIA)

presents as joint pain and stiffness involving ≥5 joints that is worse in the morning and improves over the course of the day. Individuals with polyarticular JIA are predominantly female, and the incidence peaks during adolescence and the toddler years. Nonsteroidal anti-inflammatory drugs (eg, naproxen) are the first-line treatment. Disease-modifying antirheumatic drugs such as methotrexate are also often required.

Perianal streptococcal dermatitis

presents in young children as a bright red, sharply demarcated, perianal rash associated with pruritus and pain. Treatment is with beta-lactam antibiotics.

Reye syndrome

presents in young children with rapidly progressive encephalopathy and hepatic dysfunction after aspirin administration for a viral infection. Characteristic laboratory findings include elevated aminotransferases and hyperammonemia. Coagulopathy, hypoglycemia, and metabolic acidosis are also common

Neonatal cephalic pustulosis

presents with erythematous papules and pustules limited to the face and scalp around age 3 weeks. Management is typically limited to daily cleansing with gentle soap and water, and self-resolution without scarring is expected within weeks to months.

HIV infection in infancy

presents with failure to thrive, lymphadenopathy, and opportunistic infections (eg, Pneumocystis pneumonia, severe thrush). Selective loss of CD4+ cells BUT normal absolute lymphocyte count is suggestive of HIV, and PCR reaction testing confirms the diagnosis. Adenosine deaminase deficiency is one of several gene defects resulting in severe combined immunodeficiency. Affected infants have profound lymphopenia, recurrent infections, and failure to thrive.

Retropharyngeal abscess in children

presents with fever, dysphagia, muffled voice, and pain with neck extension. Lateral neck soft-tissue x-rays will show a widened prevertebral space, cinfirm with CT Differential Diphtheria is rare in developed countries due to widespread vaccination. It presents with gray-colored tonsillar pseudomembrane and can cause airway obstruction. Diphtheria is unlikely in this immunized child. Peritonsillar abscess can also cause fever, muffled voice, and throat pain. Significant tonsillar swelling can cause uvular deviation to the contralateral tonsillar pillar. This child has no tonsillar mass or uvular deviation. Tracheitis is caused by bacterial superinfection of the trachea following upper respiratory tract infection and presents with severe croup-like symptoms, including fever and stridor. Neck x-rays may show tracheal narrowing. This child has no stridor or tracheal narrowing on x-ray.

Scarlet fever is caused by group A Streptococcus (S pyogenes)

presents with fever, pharyngitis, circumoral pallor, strawberry tongue, and rash. "sandpaper" rash is prominent along skin folds (eg, axillae, groin) and often results in desquamation. dx: strep throat cx or rapid streptococcal antigen test tx: penicillin differential: Hand, foot, and mouth disease = Coxsackievirus infection that presents in young children with lesions on the hands/feet and oral ulcerations Kawasaki disease (KD) requires 5 days of fever and ≥4 clinical criteria: >1.5 cm cervical node, polymorphous rash, edema of the hands/feet, conjunctivitis, and mucosal changes (eg, strawberry tongue, dry/cracked lips).

Congenital melanocytic nevus Congenital dermal melanocytosis

presents within the first few months of life as isolated hyperpigmented patches with an increased density of hair follicles., increase risk melanoma (Mongolian spots) presents as flat, gray-blue patches that are poorly circumscribed and will fade with time. They are classically located on the lower back and sacrum, and are more common in Asian and African American populations

bow drowned what to do?

preshospital: resuscitate remove clothes: hypothermia give supp O2 go to ED ED: sx: noninv vent, supp O2, continuous pulse ox evaluate with CXR, ABG, ECG, CBC, electrolytes, drugs asx: observe >8hrs, continue pulse ox, freq exams evaluate with CXR at the end, maybe ABG, CBC, electrolytes drug screen Aspiration of a large amount of fluid often occurs during drowning. Even if the fluid is coughed out quickly (as this patient did) and normal ventilation is restored, the fluid may have already caused damage capable of resulting in delayed pulmonary complications. This damage may include: Direct tissue injury from chemicals or contaminants in the fluid, leading to inflammation Washout of alveolar surfactant, leading to alveolar collapse Disruption of the osmotic gradient of the alveolar-capillary membrane, leading to increased fluid permeability Together, these insults can progressively impair oxygen exchange and cause atelectasis, decreased lung compliance, and noncardiogenic pulmonary edema. Without treatment, these complications can rapidly progress to life-threatening acute respiratory distress syndrome.

Patients with a history of acute rheumatic fever are at risk of

progressive rheumatic heart disease from recurrent group A Streptococcus pharyngitis. Treatment with penicillin prophylaxis prevents streptococcal infections and limits the progression of heart disease

McCune-Albright syndrome

rare cause of precocious puberty due to a mutation in the GNAS gene, which results in constant G protein activation and overproduction of pituitary hormones. Therefore, in addition to GnRH-independent (ie, peripheral) precocious puberty (FSH, LH), MAS can also lead to thyrotoxicosis (TSH), acromegaly (GH), and Cushing syndrome (ACTH). peripheral precocious puberty (breast dev abd pubic hair), irregular café-au-lait macules, and polyostotic fibrous dysplasia (eg, recurrent fractures).

Physiologic gastroesophageal reflux (ie, spit-up) is common in the first 6 months of life and characterized by infants who are "happy spitters" with normal weight gain and examination. Management is?

reassurance, and continued breastfeeding with cholecalciferol (vitamin D) supplementation is encouraged

Children age <2 years with a first febrile urinary tract infection (UTI) should receive 1-2 weeks of antibiotics and a ?

renal and bladder ultrasound to evaluate for abnormalities that may lead to recurrent UTIs. do NOT need a test of cure with repeat CBC and urine cx w/ obvious sx improvement

Severe combined immunodeficiency (SCID)

results from a severe T cell deficiency. A variety of gene defects can cause SCID and all prevent interleukin-7-driven maturation of T cells in the thymus. Patients with SCID have virtually no functional T cells; lack of T cells causes severe B cell dysfunction as well.

Myopia, or nearsightedness, is characterized by increased anterior-posterior diameter of the eye, causing blurred distance vision. High myopia (≥6 diopters of correction) increases the risk of ?

retinal detachment and macular degeneration

Leukocoria, or white pupillary reflex, in an infant or young child should prompt immediate referral to an ophthalmologist to evaluate for

retinoblastoma. Strabismus and nystagmus are other red flags. (also possible to see cataract)

Blood at the urethral meatus, Hematuria (eg, pinkish-red urine) ], Difficulty voiding (due to disruption of urethral continuity) in the setting of direct penile trauma is concerning for urethral injury and should prompt what?

retrograde urethrography Extravasation of contrast from the urethra is diagnostic of urethral injury

In a nonemergency situation in which a parent refuses potentially life-saving treatment for their child, the physician should ?

seek a court order mandating treatment.

patient's fever, arthralgia, urticarial rash, and diffuse lymphadenopathy in the setting of recent beta-lactam therapy suggests

serum sickness-like reaction (SSLR)

Severe hypospadias is characterized by a urethral meatus located at the perineum or scrotum, an underdeveloped penis/glans, and severe penile curvature. This condition may be indicative of a disorder of

sex development and warrants karyotype analysis and pelvic ultrasound.

B-cell defects typically present with_____ , whereas T-cell defects present with_____ .

sinopulmonary (otitis media, pneumo) infections after age 4-6 months w/ encapsulated bacteria are typical due to lack of opsonizing IgG and mucosal IgA. severe bacterial, fungal, viral opportunistic infections (eg, Pneumocystis jirovecii) and failure to thrive in early infancy

Perforation can lead to temporary conductive hearing loss, but the TM typically heals ...

spontaneously within days; surgical correction may be required for perforation lasting several months.

Supratentorial masses Infratentorial masses

supra = astrocytoma ependymoma (location) - optic glioma pinealoma infra = cranipharyngioma -arise in the sella turcica and appear as cystic structures with calcifications on imaging. Local compression of the optic chiasm and pituitary stalk = visual field defects and hormonal deficiencies (eg, growth hormone) brainstem glioma medulloblastoma = arises from the cerebellar vermis infra ependymoma = arise from the ependymal cell lining of the ventricles and spinal cord. In children, MCsite the fourth ventricle in the posterior fossa astrocytoma cerebellar (depend on location)

Chronic back pain associated with neurologic deficits (eg, hyporeflexia, weakness) and a gross lumbosacral abnormality (eg, lipoma) should raise concern for

tethered spinal cord with underlying spinal dysraphism (posterior arches fail to fuse while the overlying skin remains intact. As a result, the spinal cord may abnormally attach to surrounding tissues, such as a lipoma extending from the spinal canal to the subcutaneous tissue. As the child grows, the inferior end of the spinal cord remains fixed and stretches rather than rising in the spinal canal.) Becker muscular dystrophy is an X-linked recessive disorder that presents in late childhood or early adolescence with proximal muscle weakness. Muscle atrophy with hyporeflexia can occur. However, chronic lower back pain would not be expected, and this patient's lumbosacral lipoma makes a tethered cord more likely.

Primary amenorrhea

the absence of menarche at age ≥15 in girls with secondary sexual characteristics (eg, breast development) or age ≥13 in girls without secondary sexual characteristics. The first step in management is a pelvic ultrasound to evaluate the female reproductive tract. uterus present -> check FSH -> increase (primary ovarian insuff, check karyotype) OR decrease (brain tumor/necrosis, brain mRI) no uterus -> karyotype and serum testosterone XX, normal testosterone = mullerian agenesis XY, elevated testosterone = androgen insensitivity syndrome

Minimal change diseas

the most common cause of nephrotic syndrome in children. Pathogenesis involves cytokine-induced glomerular injury, which damages epithelial podocytes, leading to a massive urinary loss of protein, hypoalbuminemia, and edema (periorbitial, tibial, scrotal = gravity dep)

Glaucoma in infants typically presents with tearing, photophobia, blepharospasm, and an enlarged cornea and globe. Patients with Sturge-Weber syndrome are at increased risk due to a congenital anterior chamber angle anomaly. Evaluation of glaucoma includes

tonometry to measure intraocular pressure. tx: surgery

Diabetic ketoacidosis (DKA) presents with polyuria, abdominal pain, and fatigue and is often precipitated by infection. Laboratory results demonstrate hyperglycemia and an anion gap metabolic acidosis. DKA is characterized by an osmotic diuresis that reduces.

total body potassium even though serum potassium may be normal or elevated However, serum potassium levels may be normal (as seen in this patient) or elevated because acidemia and decreased insulin activity cause a potassium shift to the extracellular fluid compartment. Treatment involves gradual fluid repletion and insulin administration. Insulin promotes potassium redistribution to the intracellular fluid compartment. Therefore, intravenous fluids are supplemented with potassium to prevent hypokalemia.

Having an imaginary friend is most common in children age 3-6 but can be seen throughout school-age years t/F

true

simple febrile seizures

typically benign and occur in children age 6 months to 5 years. They are generalized, last <15 minutes, and do not recur within 24 hours. Diagnostic testing is unnecessary, and management is with supportive care (eg, antipyretics) and reassurance

Viral bronchiolitis

typically presents in children age <2 years with cough and increased work of breathing (eg, tachypnea, retractions). Diagnosis is typically clinical, but chest x-ray findings include peribronchial cuffing, increased interstitial markings, and the absence of a focal consolidation. tx: supportive

Molluscum contagiosum, a benign skin infection common in children, presents with flesh-colored papules with central umbilication. Lesions resolve within 6-12 months. Management ?

typically reassurance and observation